Muhammad Nasim Khan
University of Azad Jammu and Kashmir
23 Papers
84 Citations
Muhammad Nasim Khan is an academic researcher from University of Azad Jammu and Kashmir. The author has contributed to research in topics: Biology & Consanguinity. The author has an hindex of 10, co-authored 23 publications. Previous affiliations of Muhammad Nasim Khan include Quaid-i-Azam University.
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Papers
Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
TL;DR: The degree of mental retardation in the affected individuals of the seven families varied from mild to moderate, and was not dependent on the location of mutations in the ASPM gene.
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A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity
Hina Mir,Syed Irfan Raza,Syed Irfan Raza,Muhammad Touseef,Mazhar Mustafa Memon,Muhammad Nasim Khan,Sulman Jaffar,Wasim Ahmad +7 more
TL;DR: This report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals.
Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
Kathrin Blaesius,Ansar A. Abbasi,Tufail Hussain Tahir,Anna Tietze,Sylvie Picker-Minh,Ghazanfar Ali,Sundas Farooq,Hao Hu,Zahid Latif,Muhammad Nasim Khan,Angela M. Kaindl +10 more
TL;DR: This work aims to demonstrate the efforts towards in-situ applicability of EMMARM, which aims to provide real-time information about the immune systems of children with Chronically Sick Children.
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Identification of a novel homozygous TRAPPC9 gene mutation causing non‐syndromic intellectual disability, speech disorder, and secondary microcephaly
Ansar A. Abbasi,Kathrin Blaesius,Hao Hu,Zahid Latif,Sylvie Picker-Minh,Muhammad Nasim Khan,Sundas Farooq,Muzammil Ahmad Khan,Angela M. Kaindl +8 more
TL;DR: Patients from two consanguineous pedigrees of Pakistani descent with non‐syndromic intellectual disability and postnatal microcephaly with TRAPPC9 gene mutations are assessed through whole exome sequencing (WES) and cosegregation analysis to highlight common symptoms and variability of MRT13.
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Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
Saadullah Khan,Imran Ullah,Irfanullah,Muhammad Touseef,Sulman Basit,Muhammad Nasim Khan,Wasim Ahmad +6 more
TL;DR: In this paper, two consanguineous families (A, B) with clinical manifestations of BBS were described, and linkage in the family A was established to ARL6 on chromosome 3q11.2.
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