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Human Genetics
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April 15, 2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
Irfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, et al.
American Journal of Human Genetics
|
July 7, 2009
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39
Julie M Schultz, Shaheen N Khan, Zubair M Ahmed, et al.
Human Genetics
|
September 1, 2018
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Regie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2017
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Muhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, et al.
European Journal of Human Genetics : EJHG
|
June 17, 2021
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, et al.
Human Molecular Genetics
|
February 8, 2013
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Zafar Iqbal, Geert Vandeweyer, Monique van der Voet, et al.
American Journal of Human Genetics
|
October 15, 2019
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
Muhammad Ansar, Hyung-Lok Chung, Ali Al-Otaibi, et al.
Developmental Biology
|
December 24, 2013
Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice
Monique C M Balemans, Muhammad Ansar, Astrid R Oudakker, et al.
American Journal of Human Genetics
|
January 26, 2016
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, et al.
BMC Medical Genetics
|
June 25, 2015
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
Muhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, et al.
Page
of 20
Search research articles
Search
Showing results (161-170 of 191) with videos related to
Sort By:
Page
of 20
Human Genetics
|
April 15, 2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
Irfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, et al.
American Journal of Human Genetics
|
July 7, 2009
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39
Julie M Schultz, Shaheen N Khan, Zubair M Ahmed, et al.
Human Genetics
|
September 1, 2018
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
Regie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2017
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Muhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, et al.
European Journal of Human Genetics : EJHG
|
June 17, 2021
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
Thashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, et al.
Human Molecular Genetics
|
February 8, 2013
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
Zafar Iqbal, Geert Vandeweyer, Monique van der Voet, et al.
American Journal of Human Genetics
|
October 15, 2019
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
Muhammad Ansar, Hyung-Lok Chung, Ali Al-Otaibi, et al.
Developmental Biology
|
December 24, 2013
Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice
Monique C M Balemans, Muhammad Ansar, Astrid R Oudakker, et al.
American Journal of Human Genetics
|
January 26, 2016
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, et al.
BMC Medical Genetics
|
June 25, 2015
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
Muhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, et al.
Page
of 20