Niamat Khan

发表

Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source.

S. Basit, Muzammil Ahmad Khan, S. Khan, 2017, European journal of medical genetics.

Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin

S. Khan, N. Muhammad, Ziafat Rehman, 2023, International journal of dermatology.

USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families

A. Basit, Muhammad Yasin, S. Saleha, 2021, BMC Ophthalmology.

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

S. Basit, F. Rehman, S. Khan, 2019, International journal of dermatology.

Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.

E. Baple, A. Crosby, Muhammad Yasin, 2021, International journal of ophthalmology.

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

S. Khan, Q. Alam, Shazia Khan, 2023, Genes.

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

Muzammil Ahmad Khan, S. Khan, S. Abbasi, 2023, Frontiers in Neurology.

Molecular insight into CREBBP and TANGO2 variants causing intellectual disability

Muhammad Yasin, N. Muhammad, S. Saleha, 2023, The journal of gene medicine.

Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability

N. Muhammad, N. Wasif, S. A. Khan, 2023, BMC Neurology.