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BMC Pregnancy and Childbirth|June 10, 2023
Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income countryAmna Hanif, Fizza Akbar, Salman Kirmani, et al.Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|December 24, 2025
BiomarkersMaheen Mausoof Adamson, Muhammad Adeel Parvaz, Saqib Bakhshi, et al.American Journal of Medical Genetics. Part A|July 24, 2012
A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male-male transmissionMaureen Murphy-Ryan, Salman Kirmani, Dana Mara Thompson, et al.BMC Medical Education|October 22, 2025
Integrating genetics into medical curriculum: evaluating a dedicated clinical genetics module at Dow university of health sciencesMisbah Iqbal Hanif, Muhammad Furqan Bari, Mushtaq Hussain, et al.American Journal of Medical Genetics. Part A|May 12, 2025
Clinical and Genetic Landscape of IGHMBP2-Related Disorders: From Novel Variants to Phenotypic InsightsTinatin Tkemaladze, Kakha Bregvadze, Luka Abashishvili, et al.American Journal of Medical Genetics. Part A|June 4, 2014
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicismRadhika Dhamija, Salman Kirmani, Xiangling Wang, et al.JPMA. the Journal of the Pakistan Medical Association|March 23, 2022
Perspective on newborn screening (NBS): Evidence sharing on conditions to be included in NBS in PakistanHafsa Majid, Lena Jafri, Sibtain Ahmed, et al.Genetic Testing and Molecular Biomarkers|June 4, 2019
MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective StudyZeeshan Ansar, Asghar Nasir, Tariq Moatter, et al.Journal of Community Genetics|October 20, 2022
Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: a web-based panel discussionMyla Ashfaq, Syed A Ahmed, Rabia Aziz-Rizvi, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 21, 2013
Bone strength and structural deficits in children and adolescents with a distal forearm fracture resulting from mild traumaJoshua N Farr, Shreyasee Amin, L Joseph Melton, et al.Pageof 9