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Annals of Medicine and Surgery (2012)|February 4, 2021
X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in PakistanNawazish Zehra, Lena Jafri, Salman Kirmani, et al.Molecular Syndromology|April 9, 2015
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's PerspectiveAmber Volk, Erin Conboy, Beverly Wical, et al.Journal of Medical Case Reports|August 30, 2025
A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case seriesShafaq Saleem, Fizza Akbar, Salman Kirmani, et al.European Journal of Medical Genetics|March 4, 2014
Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosumRadhika Dhamija, John M Graham, Nizar Smaoui, et al.American Journal of Medical Genetics. Part A|July 24, 2012
Chronic tibial nonunion in a Rothmund-Thomson syndrome patientAaron M Carlson, Kristen B Thomas, Salman Kirmani, et al.Annals of Pediatric Cardiology|February 26, 2026
Risk of sudden cardiac death due to inorganic pyrophosphate A2 deficiency in a Pakistani infant: Diagnostic and management challenges in low-resource settingsFiza Adnan Khan, Salman Kirmani, Muhammad Kamran Younis Memon, et al.PLOS Global Public Health|April 30, 2026
Experiences of caregivers and healthcare providers regarding health services for children with Down syndrome in Karachi; PakistanZeeluf M Qaisar, Salman Kirmani, Imran Naeem, et al.Annals of Pediatric Endocrinology & Metabolism|October 6, 2018
Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasiaHamza Nasir, Syed Ibaad Ali, Naeem Haque, et al.JPMA. the Journal of the Pakistan Medical Association|February 14, 2023
The potential of stem cell therapy to tackle visual impairmentMurtuza Hassan, Sheerien Kareem Rajput, Jahan Salma, et al.Pediatric Neurology|August 31, 2013
Novel de novo SCN2A mutation in a child with migrating focal seizures of infancyRadhika Dhamija, Elaine Wirrell, Germano Falcao, et al.Pageof 9