Showing results (1401-1410 of 2,523) with videos related to

Sort By:
Pageof 253
Molecular Genetics & Genomic Medicine|October 21, 2020
The development of the PlexiQoL: A patient-reported outcome measure for adults with neurofibromatosis type 1-associated plexiform neurofibromasAlice Heaney, Jeanette Wilburn, Matthew Rouse, et al.
Molecular Genetics & Genomic Medicine|October 21, 2020
Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia PigmentiMiki Kawai, Takema Kato, Makiko Tsutsumi, et al.
Molecular Genetics & Genomic Medicine|November 7, 2020
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literatureLaura E Meissner, Ellen F Macnamara, Precilla D'Souza, et al.
Molecular Genetics & Genomic Medicine|October 31, 2020
Upregulation of miR-9 and miR-193b over human Th17 cell differentiationFahimeh Shirani, Masoud Baghi, Mahsa Rostamian Delavar, et al.
Molecular Genetics & Genomic Medicine|October 31, 2020
Epidemiology, evolutionary origin, and malaria-induced positive selection effects of G6PD-deficient alleles in Chinese populationsYuzhong Zheng, Junli Wang, Xueyan Liang, et al.
Molecular Genetics & Genomic Medicine|October 19, 2020
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutationsChen Wang, Yufei Xu, Yanrong Qing, et al.
Molecular Genetics & Genomic Medicine|September 3, 2020
Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanismLiyuan Guo, Bo Jin, Yidan Zhang, et al.
Molecular Genetics & Genomic Medicine|September 4, 2020
Genetic diversity, forensic feature, and phylogenetic analysis of Guizhou Tujia population via 19 X-STRsLi Luo, Hongyan Gao, Lilan Yao, et al.
Molecular Genetics & Genomic Medicine|September 5, 2020
First report of a Mexican family with mutation in the CDH1 geneCarmen Martínez Valenzuela, Edmundo Erbey Castelán-Maldonado, Octavio Carvajal-Zarrabal, et al.
Molecular Genetics & Genomic Medicine|September 19, 2020
A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patientTiziana Fioretti, Silvana Ungari, Maria Savarese, et al.
Pageof 253