Showing results (631-640 of 2,513) with videos related to

Sort By:
Pageof 252
Molecular Genetics & Genomic Medicine|September 7, 2026
Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, ChinaYan Li, Fei Hou, Shan Shan, et al.
Molecular Genetics & Genomic Medicine|September 9, 2026
Costello Syndrome Associated With Somatic Mosaicism of Rare p.Gly13Asp HRAS Variant: Expanding the Phenotypic SpectrumJovan Lalosevic, Katarina Djordjevic, Mirjana Gajic-Veljic, et al.
Molecular Genetics & Genomic Medicine|November 8, 2021
The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature reviewMeiping Chen, Xiaoan Ke, Hanting Liang, et al.
Molecular Genetics & Genomic Medicine|March 13, 2021
De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from VietnamThi Minh Thi Ha, Tran Thao Nguyen Nguyen, Thi Mai Ngan Nguyen, et al.
Molecular Genetics & Genomic Medicine|November 5, 2021
Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implicationsSusan Howell, Catherine Buchanan, Shanlee M Davis, et al.
Molecular Genetics & Genomic Medicine|February 21, 2019
An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countriesManjit Kaur, Donald W Hadley, Maximilian Muenke, et al.
Molecular Genetics & Genomic Medicine|March 9, 2019
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysmJong Eun Park, Jin Seok Park, Shin Yi Jang, et al.
Molecular Genetics & Genomic Medicine|March 9, 2019
Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidosesHsiang-Yu Lin, Wei-Chun Chan, Lee-Jen Chen, et al.
Molecular Genetics & Genomic Medicine|November 18, 2018
Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in malesSureni V Mullegama, Steven D Klein, Rebecca H Signer, et al.
Molecular Genetics & Genomic Medicine|March 30, 2019
Two novel genes TOX3 and COL21A1 in large extended Malay families with nonsyndromic cleft lip and/or palateNurul Syazana Mohamad Shah, Sarina Sulong, Wan Azman Wan Sulaiman, et al.
Pageof 252