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Molecular Genetics & Genomic Medicine|January 17, 2020
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotypeMehrdad A Estiar, Etienne Leveille, Dan Spiegelman, et al.
Molecular Genetics & Genomic Medicine|January 17, 2020
Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutationsYan Sun, Jian-Kang Li, Wei He, et al.
Molecular Genetics & Genomic Medicine|January 19, 2020
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorderTakuya Hiraide, Seiji Watanabe, Tomoko Matsubayashi, et al.
Molecular Genetics & Genomic Medicine|January 19, 2020
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 MutationKenji Shimizu, Daiju Oba, Ryusuke Nambu, et al.
Molecular Genetics & Genomic Medicine|December 13, 2019
Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphismsCésar Paz-Y-Miño, Verónica Yumiceba, Germania Moreta, et al.
Molecular Genetics & Genomic Medicine|December 25, 2019
A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohortShuo Li, Hui Miao, Hongbo Yang, et al.
Molecular Genetics & Genomic Medicine|December 27, 2019
Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicitySahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, et al.
Molecular Genetics & Genomic Medicine|December 27, 2019
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegiaKishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, et al.
Molecular Genetics & Genomic Medicine|December 4, 2019
Effects of consanguinity in a cohort of subjects with certain genetic disorders in QatarTawfeg Ben-Omran, Kaltham Al Ghanim, Tarunashree Yavarna, et al.
Molecular Genetics & Genomic Medicine|January 4, 2020
Developmental aspects of FXAND in a man with the FMR1 premutationEllery Santos, Chinelo Emeka-Nwonovo, Jun Yi Wang, et al.
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