Associated Papers
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S et al.
Orphanet Journal of Rare Diseases, 2023
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic JR et al.
Journal of Child Neurology, 2020
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
Khan S et al.
American Journal of Medical Genetics. Part A, 2016
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG et al.
Journal of Medical Genetics, 2016
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