Showing results (1-10 of 2,505) with videos related to
Sort By:
Pageof 251
Molecular Genetics & Genomic Medicine|October 8, 2020
Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, ColombiaVanessa Sabella-Jiménez, Carlos Otero-Herrera, Carlos Silvera-Redondo, et al.Molecular Genetics & Genomic Medicine|October 12, 2020
A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF geneShuzhi Yang, Cuicui Wang, Chengyong Zhou, et al.Molecular Genetics & Genomic Medicine|October 13, 2020
A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutationNikolai Paul Pace, Michael Pace Bardon, Isabella BorgMolecular Genetics & Genomic Medicine|October 23, 2020
Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing lossYan-Bao Xiang, Chen-Yang Xu, Yun-Zhi Xu, et al.Molecular Genetics & Genomic Medicine|March 27, 2020
Prevalence of ABCC3-1767G/A polymorphism among patients with antiretroviral-associated hepatotoxicityHariOm Singh, Sonam Lata, Ranjana Choudhari, et al.Molecular Genetics & Genomic Medicine|August 28, 2020
Report of a germline double heterozygote in MSH2 and PALB2Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N Tsaousis, et al.Molecular Genetics & Genomic Medicine|August 29, 2020
Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature reviewChen Liu, Xiaoying Li, Jing Cui, et al.Molecular Genetics & Genomic Medicine|September 16, 2020
Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementiaIzadora Fonseca Zaiden Soares, Denise Maria Christofolini, Lis Gomes Silva, et al.Molecular Genetics & Genomic Medicine|July 16, 2021
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephalyHande Kaymakcalan, İlyas Kaya, Nagihan Cevher Binici, et al.Molecular Genetics & Genomic Medicine|July 15, 2021
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron diseaseCraig L Bennett, Albert R La SpadaPageof 251