Search research articles
Contact Us
Filters
Showing results (241-250 of 261) with videos related to
Page
of 27
Sort By:
Human Molecular Genetics
|
February 22, 2015
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment
Iltaf Ahmed, Rebecca Buchert, Mi Zhou, 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 disability
Rosalind 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 disability
Muhammad Arshad Rafiq, Andreas W Kuss, Lucia Puettmann, et al.
American Journal of Human Genetics
|
January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, 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.
Scientific Reports
|
March 22, 2026
Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes
Ricardo Harripaul, Ansa Rabia, Nasim Vasli, et al.
Human Molecular Genetics
|
July 25, 2015
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability
Abolfazl Heidari, Chanakan Tongsook, Reza Najafipour, et al.
Nature Genetics
|
October 2, 2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Scientific Reports
|
April 12, 2024
Coping and emotions of global higher education students to the Ukraine war worldwide
Daniela Raccanello, Roberto Burro, Aleksander Aristovnik, et al.
Nature Genetics
|
August 26, 2025
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Page
of 27
Search research articles
Search
Showing results (241-250 of 261) with videos related to
Sort By:
Page
of 27
Human Molecular Genetics
|
February 22, 2015
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment
Iltaf Ahmed, Rebecca Buchert, Mi Zhou, 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 disability
Rosalind 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 disability
Muhammad Arshad Rafiq, Andreas W Kuss, Lucia Puettmann, et al.
American Journal of Human Genetics
|
January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, 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.
Scientific Reports
|
March 22, 2026
Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes
Ricardo Harripaul, Ansa Rabia, Nasim Vasli, et al.
Human Molecular Genetics
|
July 25, 2015
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability
Abolfazl Heidari, Chanakan Tongsook, Reza Najafipour, et al.
Nature Genetics
|
October 2, 2012
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Scientific Reports
|
April 12, 2024
Coping and emotions of global higher education students to the Ukraine war worldwide
Daniela Raccanello, Roberto Burro, Aleksander Aristovnik, et al.
Nature Genetics
|
August 26, 2025
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, et al.
Page
of 27