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Muhammad Ansar

Showing results (121-130 of 191) with videos related to

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Human Molecular Genetics|May 18, 2018
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Muhammad Ansar, Hyunglok Chung, Yar M Waryah, et al.
Journal of Human Genetics|September 5, 2018
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairmentKhurram Liaqat, Ilene Chiu, Kwanghyuk Lee, et al.
Journal of Human Genetics|April 21, 2021
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, et al.
Journal of Human Genetics|June 17, 2021
Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsyRhys Dore, Chu-Ting Chang, Amber Declève, et al.
BMC Genomics|August 14, 2024
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadismYassine Zouaghi, Anbreen Mazhar Choudhary, Saba Irshad, et al.
Neurobiology of Disease|August 13, 2023
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affectedCharlotte Montillot, Emilia Skutunova, Ayushma, et al.
Experimental Eye Research|March 21, 2016
Genetic analysis of consanguineous families presenting with congenital ocular defectsEhsan Ullah, Muhammad Arif Nadeem Saqib, Sundus Sajid, et al.
Journal of Human Genetics|December 1, 2018
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significanceKhurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza, et al.
Investigative Ophthalmology & Visual Science|September 11, 2020
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic FactorsVincent Lhussiez, Elisabeth Dubus, Quénol Cesar, et al.
Pageof 20

Showing results (121-130 of 191) with videos related to

Sort By:
Pageof 20
Human Molecular Genetics|May 18, 2018
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Muhammad Ansar, Hyunglok Chung, Yar M Waryah, et al.
Journal of Human Genetics|September 5, 2018
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairmentKhurram Liaqat, Ilene Chiu, Kwanghyuk Lee, et al.
Journal of Human Genetics|April 21, 2021
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, et al.
Journal of Human Genetics|June 17, 2021
Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13Anushree Acharya, Syed Irfan Raza, Muhammad Zeeshan Anwar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsyRhys Dore, Chu-Ting Chang, Amber Declève, et al.
BMC Genomics|August 14, 2024
Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadismYassine Zouaghi, Anbreen Mazhar Choudhary, Saba Irshad, et al.
Neurobiology of Disease|August 13, 2023
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affectedCharlotte Montillot, Emilia Skutunova, Ayushma, et al.
Experimental Eye Research|March 21, 2016
Genetic analysis of consanguineous families presenting with congenital ocular defectsEhsan Ullah, Muhammad Arif Nadeem Saqib, Sundus Sajid, et al.
Journal of Human Genetics|December 1, 2018
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significanceKhurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza, et al.
Investigative Ophthalmology & Visual Science|September 11, 2020
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic FactorsVincent Lhussiez, Elisabeth Dubus, Quénol Cesar, et al.
Pageof 20