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Expert Review of Hematology|December 25, 2025
Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income countrySyed Ibrahim Bukhari, Fizza Akbar, Salman Kirmani, et al.American Journal of Medical Genetics. Part A|February 9, 2012
Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standardJennelle C Hodge, Rachael L Hulshizer, Pam Seger, et al.American Journal of Medical Genetics. Part A|June 27, 2023
The spectrum of hereditary neuromuscular disorders in the Pakistani populationFizza Akbar, Shafaq Muhammad Saleem, Ehtesham Khalid, et al.Prenatal Diagnosis|March 15, 2024
Clinical experience of next generation sequencing based expanded carrier screening in high-risk couples from a tertiary healthcare center in PakistanFizza Akbar, Salman Kirmani, Muhammad Farrukh Qazi, et al.American Journal of Medical Genetics. Part A|September 18, 2009
Vitamin A deficiency in an infant with PAGOD syndromeRalitza Gavrilova, Nikola Babovic, Aida Lteif, et al.JPMA. the Journal of the Pakistan Medical Association|June 17, 2022
A case report on fibular aplasia, tibial campomelia, oligosyndactyly syndrome variant in a male infantHina Mumtaz Hashmi, Nazia Shamim, Vinod Kumar, et al.Cureus|February 27, 2023
Endocrine Abnormalities in Children With Traumatic Brain Injury at a Tertiary Care CenterAaida Rao, Altaf Ali Laghari, Iman Bari, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 19, 2011
Relationship of testosterone and osteocalcin levels during growthSalman Kirmani, Elizabeth J Atkinson, L Joseph Melton, et al.Epilepsy & Behavior Reports|December 6, 2022
Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income countryFizza Akbar, Raisa Saleh, Salman Kirmani, et al.European Journal of Human Genetics : EJHG|January 23, 2014
Fragile X syndrome due to a missense mutationLeila K Myrick, Mika Nakamoto-Kinoshita, Noralane M Lindor, et al.Pageof 9