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Submissions from 2014

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Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism, Radhika Dhamija, Salman Kirmani, Xiangling Wang, Matthew J. Ferber, Eric D. Wieben, Konstantinos N. Lazaridis, and Dusica Babovic-Vuksanovic

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Bone strength and structural deficits in children and adolescents with a distal forearm fracture resulting from mild trauma, Joshua N. Farr, Shreyasee Amin, L. Joseph Melton III, Salman Kirmani, Louise K. McCready, Elizabeth J. Atkinson, Ralph Müller, and Sundeep Khosla

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Diminished bone strength is observed in adult women and men who sustained a mild trauma distal forearm fracture during childhood, Joshua N. Farr, Sundeep Khosla, Sara J. Achenbach, Elizabeth J. Atkinson, Salman Kirmani, Louise K. McCready, L Joseph Melton III, and Shreyasee Amin

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CT scan in children with acute bacterial meningitis: experience from emergency department of a tertiary-care hospital in Karachi, Pakistan, Jabeen Fayyaz, Arshalooz Rehman, Akhter Hamid, Munawar Khursheed, Nukhba Zia, Asher Feroze, and Uzma R. Khan

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Age related clinical manifestation of acute bacterial meningitis in children, Jabeen Fayyaz, Arshalooz Rehman, Akhter Hamid, Munawar Khursheed, Nukhbha Zia, and Asher Feroze

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Effects of estrogen on bone mRNA levels of sclerostin and other genes relevant to bone metabolism in postmenopausal women, Koji Fujita, Matthew M. Roforth, Susan Demaray, Ulrike McGregor, Salman Kirmani, Louise K. McCready, James M. Peterson, Matthew T. Drake, David G. Monroe, and Sundeep Khosla

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Feasibility of pediatric plasma apheresis in intensive care settings, Anwarul Haque, Gul Sher, Mehar Hoda, and Bushra Moiz

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Short-term neonatal outcome in late preterm vs. term infants, Anila Haroon, Syed Rehan Ali, Shakeel Ahmed, and Humaira Maheen

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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities, J C. Hodge, E Mitchell, V Pillalamarri, T L. Toler, F Bartel, H M. Kearney, Y S. Zou, W H. Tan, C Hanscom, and Salman Kirmani

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Evaluating associations between vaccine response and malnutrition, gut function, and enteric infections in the MAL-ED cohort study: Methods and challenges, Christel Hoest, Imran Ahmed, Didar Alam, Syed Asad Ali, Zulfiqar Ahmed Bhutta, Shahida Qureshi, Sadia Shakoor, Sajid Bashir Soofi, Ali Turab, Aisha Khizar Yousafzai, and Anita K. M. Zaidi

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The upsurge of SSPE--a reflection of national measles immunization status in Pakistan, Shahnaz Ibrahim, Nida Amjad, Ali Faisal Saleem Dr, Prem Chand, Arshad Rafique, and Khadija Nuzhat Humayun

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Culturable aerobic and facultative anaerobic intestinal bacterial flora of black cobra (Naja naja karachiensis) in southern Pakistan, Junaid Iqbal, Mehwish Sagheer, Nazneen Tabassum, Ruqaiyyah Siddiqui, and Naveed Ahmed Khan

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Sentinel hospital-based surveillance for assessment of burden of rotavirus gastroenteritis in children in Pakistan, Abdul Momin Kazi, Gohar Javed Warraich, Shahida Qureshi, Huma Qureshi, Muhammad Mubashir Ahmad Khan, and Anita Kaniz Mehdi Zaidi

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Monitoring polio supplementary immunization activities using an automated short text messaging system in Karachi, Pakistan, A M. Kazi, A Murtaza, S Khoja, A K. Zaidi, and S A. Ali

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Readmission to paediatric intensive care unit: frequency, causes and outcome, Muhammad Rehan Khan, Prem Kumar, Sumaira Iram, and Anwarul Haque

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Genetic Testing in Endocrinology, Salman Kirmani

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Antibiotic therapy versus no antibiotic therapy for children aged two to 59 months with WHO-defined non-severe pneumonia and wheeze, Zohra S. Lassi, Rohail Kumar, Jai K. Das, Rehana A. Salam, and Zulfiqar A. Bhutta

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The conceptual framework and assessment methodology for the systematic reviews of community-based interventions for the prevention and control of infectious diseases of poverty, Zohra S. Lassi, Rehana A. Salam, Jai K. Das, and Zulfiqar A. Bhutta

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Clinical manifestations and treatment outcomes in HIV-1-infected children receiving antiretroviral therapy in Karachi, Pakistan, Fatima Mir, Farah Naz Qamar, Naila Baig-Ansari, Azra Ghayas Abro, Syed Qamar Abbas, Mohammed Ahmed Kazi, Arjumand Rizvi, and Anita Kaniz Mehdi Zaidi

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Clinical Characteristics and Immediate-Outcome of Children Mechanically Ventilated in PICU of Pakistan, Beenish Mukhtar, Naveedur R. Siddiqui, and Anwarul Haque

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Fragile X syndrome due to a missense mutation, Leila K. Myrick, Mika Nakamoto-Kinoshita, Noralane M. Lindor, Salman Kirmani, Xiaodong Cheng, and Stephen T. Warren

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Theory-driven process evaluation of a complementary feeding trial in four countries, Jamie E. Newman, Ana Garces, Manolo Mazariegos, K Michael Hambidge, Albert Manasyan, Antoinette Tshefu, Adrien Lokangaka, Neelofar Sami, Waldemar A. Carlo, and Carl L. Bose

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Immune responses to Vi capsular polysaccharide typhoid vaccine in children 2 to 16 years old in Karachi, Pakistan, and Kolkata, India, R. Leon Ochiai, M. Imran Khan, Sajid B. Soofi, Dipika Sur, Suman Kanungo, Young Ae You, Atif Habib, Shah Muhammad Sahito, Byomkesh Manna, Camilo J. Acosta, Mohammad Ali, Sujit K. Bhattacharya, Zulfiqar A. Bhutta, and John D. Clemens

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A three-year review of antimicrobial resistance of Salmonella enterica serovars Typhi and Paratyphi A in Pakistan, Farah Naz Qamar, Asma Azmatullah, Abdul Momin Kazi, Erum Khan, and Anita Kaniz Mehdi Zaidi

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Subacute sclerosing panencephalitis: clinical and demographic characteristics, Arshad Rafique, Nida Amjad, Prem Chand, Syed Sohail Zahoor Zaidi, Muhammad Suleman Rana, Khalid Ahmed, and Shahnaz Ibrahim

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The MAL-ED cohort study: Methods and lessons learned when assessing early child development and caregiving mediators in infants and young children in 8 low- and middle-income countries, Muneera Rasheed, Aisha Khizar Yousafzai, (MAL-ED) Network Investigators, Imran Ahmed, Didar Alam, Syed Asad Ali, Zulfiqar Ahmed Bhutta, Shahida Qureshi, Sadia Shakoor, Sajid Bashir Soofi, Ali Turab, and Anita K. M. Zaidi

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Posterior mediastinal branchial cleft cyst: an unusual site, Abdul Rashid, Vaqas Ahmad, Saqib Qazi, Abdul Gaffar Billoo, Sajida Rashid, and Ali Faisal Saleem

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Modeling environmental influences on child growth in the MAL-ED cohort study: Opportunities and challenges, Stephanie A. Richard, Imran Ahmed, Didar Alam, Syed Asad Ali, Zulfiqar Ahmed Bhutta, Shahida Qureshi, Sadia Shakoor, Sajid Bashir Soofi, Ali Turab, Aisha Khizar Yousafzai, and Anita K. M. Zaidi

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Effects of age on bone mRNA levels of sclerostin and other genes relevant to bone metabolism in humans, Matthew M. Roforth, Koji Fujita, Ulrike I. McGregor, Salman Kirmani, Louise K. McCready, James M. Peterson, Matthew T. Drake, David G. Monroe, and Sundeep Khosla

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Impact of intrauterine growth restriction on long-term health, Rehana A. Salam, Jai K. Das, and Zulfiqar A. Bhutta

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Multiple micronutrient supplementation during pregnancy and lactation in low-to-middle-income developing country settings: impact on pregnancy outcomes, Rehana A. Salam, Jai K. Das, and Zulfiqar A. Bhutta

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Impact of community-based interventions for the prevention and control of malaria on intervention coverage and health outcomes for the prevention and control of malaria, Rehana A. Salam, Jai K. Das, Zohra S. Lassi, and Zulfiqar A. Bhutta

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Impact of community-based interventions on HIV knowledge, attitudes and transmission, Rehana A. Salam, Sarah Haroon, Hashim H. Ahmed, Jai K. Das, and Zulfiqar A. Bhutta

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Community-based interventions for the prevention and control of helmintic neglected tropical diseases, Rehana A. Salam, Hasina Maredia, Jai K. Das, Zohra S. Lassi, and Zulfiqar A. Bhutta

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Empyema thoracis in children: clinical presentation, management and complications, Ali Faisal Saleem, Abdul Sattar Shaikh, Reema Sajjad Khan, Fazal Khan, Ahmad Vaqas Faruque, and Muhammad Arif Mateen Khan

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Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment, Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano-Rivas, Christine G. Spaeth, Stephanie Efthymiou, Pasquale Striano, Jana Vandrovcova, Salman Kirmani, Shahnaz Ibrahim, and Farida Jan

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Effect of L-type calcium channel blocker (amlodipine) on myocardial iron deposition in patients with thalassaemia with moderate-to-severe myocardial iron deposition: protocol for a randomised, controlled trial, Amarah Shakoor, Maaman Zahoor, Alina Sadaf, Najveen Alvi, Zehra Fadoo, Arjumand Rizvi, Farheen Quadri, Fateh Ali Tipoo, Mohammad Khurshid, Zaffar Sajjad, Steven Colan, and Babar S Hasan

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Pneumococcal serotypes and serogroups causing invasive disease in Pakistan, 2005-2013, Sadia Shakoor, Furqan Kabir, Asif R. Khowaja, Shahida M. Qureshi, Fyezah Jehan, Farah Qamar, Cynthia G. Whitney, and Anita K M Zaidi

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Multi-drug resistant gram negative infections and use of intravenous polymyxin B in critically ill children of developing country: Retrospective cohort study, Naveed-ur-Rehman Siddiqui, Farah Naz Qamar, Humaira Jurair, and Anwarul Haque

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Risk factors associated with birth asphyxia in rural district Matiari, Pakistan: A case control study, Farhana Tabassum, Arjumand Rizvi, Shabina Ariff, Sajid Bashir Soofi, and Zulfiqar Ahmed Bhutta

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Infant feeding practices, dietary adequacy, and micronutrient status measures in the MAL-ED study, Ali Turab, (MAL-ED) Network Investigators, Imran Ahmed, Didar Alam, Syed Asad Ali, Zulfiqar Ahmed Bhutta, Shahida Qureshi, Sadia Shakoor, Sajid Bashir Soofi, Ali Turab, Aisha Khizar Yousafzai, and Anita K. M. Zaidi

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Moving beyond prevalence studies: screening and interventions for children with disabilities in low-income and middle-income countries, Aisha K. Yousafzai, Paul Lynch, and Melissa Gladstone

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Capacity building in the health sector to improve care for child nutrition and development, Aisha K. Yousafzai, Muneera A. Rasheed, Bernadette Daelmans, Sheila Manji, Caroline Arnold, Raghu Lingam, Joshua Muskin, and Jane E. Lucas

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Recurrent Salmonellosis in a Child with Complete IL-12Rbeta1 Deficiency, Mohammad Faizan Zahid, Syed Asad Ali, Fyezah Jehan, Abdul Gaffar Billo, Jean-Laurent Casanova, Jacinta Bustamante, Stephanie Boisson-Dupuis, and Fatima Mir

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Frequency of cardiorenal syndrome type-I in hospitalized children with acute heart failure in a tertiary-care hospital, Mehjabeen Zaidi, Arshalooz Jamila Rehman, Anwarul Haque, Saleem Akhtar, and Prem Kumar Maheshwar

Submissions from 2013

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Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation, Roshini S. Abraham, Mike Recher, Silvia Giliani, Jolan E. Walter, Yu Nee Lee, Francesco Frugoni, Daniel E. Maddox, Salman Kirmani, and Luigi D. Notarangelo

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Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency, Bushra Afroze, Zabedah Yunus, Beat Steinmann, and Rene Santer

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Oesophageal duplication cyst presenting as haemoptysis, Noureen Afzal, Syeda Ezz-e-Rukhshan Adil, Ammara Mushtaq, Arshalooz Rahman, and Muneer Amanullah

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Pulmonary arteriovenous malformation in cryptogenic liver cirrhosis, Noureen Afzal, Saleem Akhtar, Shakeel Ahmed, and Mehnaz Atiq

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Treatment of Burn Wound Infection Using Ultraviolet Light: A Case Report, Numra Abdul Aleem, Moaz Aslam, Mohammad Faizan Zahid, Arshalooz Jamila Rahman, and Fazl Ur Rehman

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Role of human metapneumovirus, influenza a virus and respiratory syncytial virus in causing WHO-defined severe pneumonia in children in a developing country, Asad Ali, Asif Raza Khowaja, Maaman Zahoor Bashir, Fatima Aziz, Sultan Mustafa, and Anita Zaidi

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Salmonella Cholecystitis: Atypical Presentation of a Typical Condition, Rehan Ali, Shakeel Ahmed, Maqbool Qadir, Huba Atiq, and Muhammad Hamid

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Pneumothoraces in a neonatal tertiary care unit: case series, Rehan Ali, Shakeel Ahmed, Maqbool Qadir, Prem Maheshwari, and Rehan Khan

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Pandemic influenza A(H1N1)pdm09: An unrecognized cause of mortality in children in Pakistan, Syed Asad Ali, Fatima Aziz, Nida Akhtar, Shahida Qureshi, Kathryn Edwards, and Anita Zaidi

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Disease patterns and outcomes of neonatal admissions at a secondary care hospital in pakistan, Syed R. Ali, Shakeel Ahmed, and Heeramani Lohana

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Trends of empiric antibiotic usage in a secondary care hospital, Karachi, Pakistan, Syed Rehan Ali, Shakeel Ahmed, and Heeramani Lohana

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A distal forearm fracture in childhood is associated with an increased risk for future fragility fractures in adult men, but not women, Shreyasee Amin, L Joseph Melton 3rd, Sara J. Achenbach, Elizabeth J. Atkinson, Mark B. Dekutoski, Salman Kirmani, Philip R. Fischer, and Sundeep Khosla

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"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II, Genie M. Bang, Salman Kirmani, Alice Patton, Jose S. Pulido, and Michael C. Brodsky

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In the absence of such comparative benchmark(s), there have even been calls for local growth standards and, indeed, a redefinition of the cut-offs for low birthweight Introduction, Z A. Bhutta

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Standardisation of neonatal clinical practice, Z A. Bhutta, F Giuliani, A Haroon, H E. Knight, E Albernaz, M Batra, B Bhat, E Bertino, K McCormick, and R Ochieng

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Early nutrition and adult outcomes: pieces of the puzzle, Zulfiqar A. Bhutta

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Global maternal, newborn, and child health--so near and yet so far, Zulfiqar A. Bhutta and Robert E. Black

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Evidence-based interventions for improvement of maternal and child nutrition: what can be done and at what cost?, Zulfiqar A. Bhutta, Jai K. Das, Arjumand Rizvi, Michelle F. Gaffey, Neff Walker, Susan Horton, Patrick Webb, Anna Lartey, and Robert E. Black

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Global burden of childhood diarrhea and pneumonia: what can and should be done?, Zulfiqar A. Bhutta and Jai Kumar Das

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Interventions to address deaths from childhood pneumonia and diarrhoea equitably: what works and at what cost?, Zulfiqar A. Bhutta, Jai K. Das, Neff Walker, Arjumand Rizvi, Harry Campbell, Igor Rudan, and Robert E. Black

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Reproductive, maternal, newborn, and child health in Pakistan: challenges and opportunities, Zulfiqar A. Bhutta, Assad Hafeez, Arjumand Rizvi, Nabeela Ali, Amanullah Khan, Faatehuddin Ahmad, Shereen Bhutta, Tabish Hazir, Anita Zaidi, and Sadequa N. Jafarey

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Global Maternal, Newborn, and Child Health, Zulfiqar Ahmed Bhutta and Robert E. Black

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Scientific declaration on polio eradication, Zulfiqar A. Bhutta and Walter A. Orenstein

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Meeting the challenges of micronutrient malnutrition in the developing world, Zulfiqar A. Bhutta, Rehana A. Salam, and Jai K. Das

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Setting priorities for development of emerging interventions against childhood diarrhoea, Zulfiqar A. Bhutta, Alvin Zipursky, Kerri Wazny, Myron M. Levine, Robert E. Black, Diego G. Bassani, Mathuram Shantosham, Stephen B. Freedman, Adenike Grange, and Margaret Kosek

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Surgical outcomes of pediatric patients with ventricular septal defects in a tertiary referral center in Pakistan: a retrospective cohort study, Omair Bushra, Muneer Amanullah, and Atiq Mehnaz

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Systematic review of zinc fortification trials, Jai K. Das, Rohail Kumar, Rehana A. Salam, and Zulfiqar A. Bhutta

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Micronutrient fortification of food and its impact on woman and child health: A systematic review, Jai K. Das, Rehana A. Salam, Rohail Kumar, and Zulfiqar A. Bhutta

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Setting research priorities for preconception care in low- and middle-income countries: Aiming to reduce maternal and child mortality and morbidity, Sohni Dean, Igor Rudan, Fernando Althabe, Aimee Webb Girard, Christopher Howson, Ana Langer, Joy Lawn, Mary-Elizabeth Reeve, Katherine C. Teela, and Mireille Toledano

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Importance of intervening in the preconception period to impact pregnancy outcomes, Sohni V. Dean, Ayesha M. Imam, Zohra S. Lassi, and Zulfiqar A. Bhutta

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An unbalanced 5;12 translocation in a patient with septo-optic-dysplasia, Radhika Dhamija, Lindsey Waltman, Nicole Hoppman, and Salman Kirmani

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Septo-optic dysplasia in a patient with an unbalanced 5;12 translocation, Radhika Dhamija, Lindsey Waltman, Nicole Hoppman, and Salman Kirmani

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Novel SCN2A mutation in a proband with migrating focal seizures of infancy, Radhika Dhamija, E Wirrell, G Falcao, Salman Kirmani, and L C. Wong-Kisiel

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Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy, Radhika Dhamija, Elaine Wirrell, Germano Falcao, Salman Kirmani, and Lily C. Wong-Kisiel

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P-0071 Reasons for early abondonment of treatment in children with acute lymphoblastic leukemia in a low middle income country, Zehra Fadoo, Asim Belgaumi, S. Ashraf, A. Naqvi, and Muhammad Imran Nisar

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New developments in the management of congenital Factor XIII deficiency, Zehra Fadoo, Quratulain Merchant, and Karim Abdur Rehman

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Body composition and physical activity during childhood and adolescence: Relations to biomechanical bone strength, Joshua Farr, Shreyasee Amin, Joseph Melton, Salman Kirmani, Louise McCready, Elizabeth Atkinso, and Sundeep Khosla

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Implications of mild vs moderate trauma childhood distal forearm fractures for peak bone mass acquisition: The two faces of growth, Joshua Farr, Sundeep Khosla, Joseph Melton, Elizabeth Atkinson, Salman Kirmani, Louise McCready, and Shreyasee Amin

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Isolation and characterization of human osteoblasts from needle biopsies without in vitro culture, Koji Fujita, Matthew Roforth, James Peterson, Salman Kirmani, Matthew Drake, Louise McCready, David Monroe, and Sundeep Khosla

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A study to evaluate the acceptability, feasibility and impact of packaged interventions (“Diarrhea Pack”) for prevention and treatment of childhood diarrhea in rural Pakistan, Atif Habib, Sajid Soofi, Kamran Sadiq, Tariq Samejo, Musawar Hussain, Mushtaq Mirani, Asmatullah Rehmatullah, Imran Ahmed, and Zulfiqar A Bhutta

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A study evaluating poliovirus antibodies and risk factors associated with polio seropositivity in low socioeconomic areas of Pakistan, Atif Habib, S. Soofi, N. Ali, R.W. Sutter, M. Palansch, H. Qureshi, T. Akhtar, N.A. Molodecky, H. Okayasu, and Zulfiqar A. Bhutta

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Response to Cobben et al. "Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice", Jennelle C. Hodge and Salman Kirmani

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Prevalence of early childhood disability in a rural district of Sind, Pakistan, Shahnaz Ibrahim and Zulfiqar Ahmed Bhutta

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Risk of hearing loss in children exposed to gentamicin for the treatment of sepsis in young infancy: A community based cohort study in Pakistan, Urooj Iftikhar, Syed Asad Ali, Shiyam Sunder Tikmani, Iqbal Azam, Sarah Saleem, and Anita Kaniz Zaidi

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Nutritional management of the low birth weight/preterm infant in community settings: a perspective from the developing world, Aamer Imdad and Zulfiqar A. Bhutta

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Global epidemiology of invasive meningococcal disease, Rabab Z. Jafri, Syed Asad Ali, Nancy E. Messonnier, Carol Tevi-Benissan, David Durrheim, Juhani Eskola, Florence Fermon, Keith P. Klugman, Mary Ramsay, and Zulfiqar Ahmed Bhutta

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Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant, Asma Javed, Jennifer M. Leonard, Carl Cramer, Seema Kumar, Salman Kirmani, and Chad K. Brands

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A double blind community-based randomized trial of Amoxicillin Versus Placebo for fast breathing Pneumonia in children aged 2-59 months in Karachi, Pakistan (RETAPP), Fyezah Jehan, Muhammad Imran Nisar, Salima Kerai, Nick Brown, Benazir Balouch, Zulfiqar Hyder, Gwen Ambler, Amy Sarah Ginsburg, and Anita K. M. Zaidi

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Botulism in children: a diagnostic dilemma in developing countries, Muhammad Rehan Khan, Prem Kumar, Shahnaz Shahid, and Anwarul Haque

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Thrombotic microangiopathic syndrome: a novel complication of diabetic ketoacidosis, Muhammad Rehan Khan, Prem Kumar Maheshwari, and Anwarul Haque

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Mortality and neurodevelopmental outcomes of acute bacterial meningitis in children aged <5 years in>Pakistan, Asif Raza Khowaja, Syed Mohiuddin, Adam L. Cohen, Ahmed Khalid, Usma Mehmood, Farnaz Naqvi, Nargis Asad, Khatidja Pardhan, Kim Mulholland, Rana Hajjeh, Anita K.M. Zaidi, and Saad Shafqat

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Effectiveness of Haemophilus influenzae type b conjugate vaccine on radiologically-confirmed pneumonia in young children in Pakistan, Asif Raza Khowaja, Syed Mohiuddin, Adam L. Cohen, Waseem Mirza, Naila Nadeem, Talha Zuberi, Basit Salam, Fatima Mubarak, Bano Rizvi, and Yousuf Husen

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Similarity of geleophysic dysplasia and Weill-Marchesani syndrome, Aaina Kochhar, Salman Kirmani, Frank Cetta, Brian Younge, James C. Hyland, and Virginia Michels

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Quality of care provided by mid-level health workers: systematic review and meta-analysis, Zohra S. Lassi, Giorgio Cometto, Luis Huicho, and Zulfiqar A. Bhutta

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The interconnections between maternal and newborn health--evidence and implications for policy, Zohra S. Lassi, Amara Majeed, Shafia Rashid, Mohammad Yawar Yakoob, and Zulfiqar A. Bhutta