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T Sarwar

Showing results (11-20 of 17) with videos related to

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Human Molecular Genetics|March 5, 2020
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short statureMuhammad Ansar, Frédéric Ebstein, Hayriye Özkoç, et al.
Human Molecular Genetics|November 28, 2018
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short statureMuhammad Ansar, Sohail Aziz Paracha, Alessandro Serretti, et al.
American Journal of Human Genetics|October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile CataractsMuhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, 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.
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.
American Journal of Human Genetics|October 15, 2019
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short StatureMuhammad Ansar, Hyung-Lok Chung, Ali Al-Otaibi, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Human Molecular Genetics|March 5, 2020
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short statureMuhammad Ansar, Frédéric Ebstein, Hayriye Özkoç, et al.
Human Molecular Genetics|November 28, 2018
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short statureMuhammad Ansar, Sohail Aziz Paracha, Alessandro Serretti, et al.
American Journal of Human Genetics|October 6, 2018
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile CataractsMuhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, 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.
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.
American Journal of Human Genetics|October 15, 2019
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short StatureMuhammad Ansar, Hyung-Lok Chung, Ali Al-Otaibi, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
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