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Clinical Laboratory|June 10, 2021
Clinico-Pathological and Molecular Spectrum of Biotinidase Deficiency- Experience from a Lower Middle-Income CountrySibtain Ahmed, Min Ni, Ralph J DeBerardinis, et al.
Medicine|December 23, 2021
Musculoskeletal manifestations in Alkaptonuria: A cross-sectional studyAysha Habib Khan, Bushra Afroze, Hafsa Majid, et al.
JPMA. the Journal of the Pakistan Medical Association|April 20, 2019
Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in PakistanSibtain Ahmed, Hafsa Majid, Lena Jafri, 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.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP|May 12, 2017
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani ChildrenNoreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, et al.
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.
JPMA. the Journal of the Pakistan Medical Association|March 21, 2019
Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in PakistanMaya Zahid, Aysha Habib Khan, Zabedah Md Yunus, et al.
Scandinavian Journal of Clinical and Laboratory Investigation|September 3, 2024
Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from PakistanSibtain Ahmed, Ling Cai, Fizza Akbar, et al.
JPMA. the Journal of the Pakistan Medical Association|May 30, 2018
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in PakistanHafsa Majid, Lena Jafri, Aysha Habib Khan, et al.
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