Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Frontiers in Neurology|June 12, 2023
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanismsNazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, et al.
Scientific Reports|July 15, 2024
LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndromeJelena Pozojevic, Radhika Sivaprasad, Joshua Laß, et al.
Molecular Biology Reports|January 7, 2014
Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan originAbdul Hameed Baloch, Shakeela Daud, Nafeesa Raheem, et al.
Molecular Genetics & Genomic Medicine|January 3, 2019
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and PakistanDulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, et al.
Human Genetics|December 21, 2024
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalitiesNaseebullah Kakar, Selinda Mascarenhas, Asmat Ali, et al.
American Journal of Human Genetics|August 13, 2013
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosumLina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman, et al.
Brain : a Journal of Neurology|March 12, 2014
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthoodJoanne Ng, Juan Zhen, Esther Meyer, et al.
Genome Research|January 13, 2016
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and miceMalte Spielmann, Naseebullah Kakar, Naeimeh Tayebi, et al.
Human Genetics|April 15, 2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactylyIrfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, et al.
Nature Genetics|April 29, 2024
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagyKarla P Figueroa, Caspar Gross, Elena Buena-Atienza, et al.
Pageof 4