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Muhammad Ansar

Showing results (151-160 of 191) with videos related to

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Experimental Eye Research|May 30, 2024
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from PakistanRabia Basharat, Suzanne E de Bruijn, Muhammad Zahid, et al.
Genome Medicine|April 14, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomaliesFrancesca Mattioli, Rún Friðriksdóttir, Anne Hebert, et al.
American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
Molecular Vision|March 25, 2015
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani originZeinab Ravesh, Mohammed E El Asrag, Nicole Weisschuh, et al.
Scientific Reports|August 13, 2021
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathyPierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, et al.
Frontiers in Medicine|September 16, 2024
The genetic cause of neurodevelopmental disorders in 30 consanguineous familiesSohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, et al.
Human Molecular Genetics|January 7, 2020
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiencyMuhammad Ansar, Emmanuelle Ranza, Madhur Shetty, et al.
Human Genetics|June 12, 2015
Mutation of ATF6 causes autosomal recessive achromatopsiaMuhammad Ansar, Regie Lyn P Santos-Cortez, Muhammad Arif Nadeem Saqib, et al.
American Journal of Human Genetics|December 7, 2014
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disabilityRosalind Law, Tracy Dixon-Salazar, Julie Jerber, et al.
American Journal of Human Genetics|July 19, 2011
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disabilityMuhammad Arshad Rafiq, Andreas W Kuss, Lucia Puettmann, et al.
Pageof 20

Showing results (151-160 of 191) with videos related to

Sort By:
Pageof 20
Experimental Eye Research|May 30, 2024
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from PakistanRabia Basharat, Suzanne E de Bruijn, Muhammad Zahid, et al.
Genome Medicine|April 14, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomaliesFrancesca Mattioli, Rún Friðriksdóttir, Anne Hebert, et al.
American Journal of Human Genetics|May 14, 2019
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial FeaturesMuhammad Ansar, Farid Ullah, Sohail A Paracha, et al.
Molecular Vision|March 25, 2015
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani originZeinab Ravesh, Mohammed E El Asrag, Nicole Weisschuh, et al.
Scientific Reports|August 13, 2021
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathyPierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, et al.
Frontiers in Medicine|September 16, 2024
The genetic cause of neurodevelopmental disorders in 30 consanguineous familiesSohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, et al.
Human Molecular Genetics|January 7, 2020
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiencyMuhammad Ansar, Emmanuelle Ranza, Madhur Shetty, et al.
Human Genetics|June 12, 2015
Mutation of ATF6 causes autosomal recessive achromatopsiaMuhammad Ansar, Regie Lyn P Santos-Cortez, Muhammad Arif Nadeem Saqib, et al.
American Journal of Human Genetics|December 7, 2014
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disabilityRosalind Law, Tracy Dixon-Salazar, Julie Jerber, et al.
American Journal of Human Genetics|July 19, 2011
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disabilityMuhammad Arshad Rafiq, Andreas W Kuss, Lucia Puettmann, et al.
Pageof 20