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Molecular Genetics & Genomic Medicine|February 9, 2022
A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature reviewRuolan Hu, Yu Qiu, Yifei Li, et al.
Molecular Genetics & Genomic Medicine|February 12, 2022
Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndromeHuajin Li, Yanfeng Huang, Jing Li, et al.
Molecular Genetics & Genomic Medicine|January 29, 2022
Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1Liwen Wu, Feng Yang, Jia Wang, et al.
Molecular Genetics & Genomic Medicine|February 5, 2022
Identification of a novel microdeletion causative of Nance-Horan syndromeMariana Lopez Martinolich, Hope Northrup, Pedro Mancias, et al.
Molecular Genetics & Genomic Medicine|March 23, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohortXiaolan Fang, Kameryn M Butler, Fatima Abidi, et al.
Molecular Genetics & Genomic Medicine|March 22, 2022
Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French GuianaAntoine Defo, Alain Verloes, Narcisse Elenga
Molecular Genetics & Genomic Medicine|April 9, 2022
Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patientYoufeng Zhou, Ke Xu, Weiyue Gu, et al.
Molecular Genetics & Genomic Medicine|April 12, 2022
Profiling of circulating chromosome 21-encoded microRNAs, miR-155, and let-7c, in down syndromeJesús Manuel Pérez-Villarreal, Katia Aviña-Padilla, Evangelina Beltrán-López, et al.
Molecular Genetics & Genomic Medicine|September 7, 2018
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type IIJohn E Richter, Michael T Zimmermann, Patrick R Blackburn, et al.
Molecular Genetics & Genomic Medicine|October 9, 2018
The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidosesHsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, et al.
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