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Journal of Human Genetics|January 18, 2018
A novel human muscle cell model of Duchenne muscular dystrophy created by CRISPR/Cas9 and evaluation of antisense-mediated exon skippingTakenori Shimo, Kana Hosoki, Yusuke Nakatsuji, et al.Journal of Human Genetics|February 1, 2018
A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disordersMohsen Ghanbari, Marjolein J Peters, Paul S de Vries, et al.Journal of Human Genetics|February 2, 2018
Correction: Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in JapanMasami Arai, Shiro Yokoyama, Chie Watanabe, et al.Journal of Human Genetics|May 23, 2022
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring systemTomoko Fuke, Akie Nakamura, Takanobu Inoue, et al.Journal of Human Genetics|May 9, 2022
Public attitudes in the clinical application of genome editing on human embryos in Japan: a cross-sectional survey across multiple stakeholdersShinobu Kobayashi, Takekazu Miyoshi, Tohru Kobayashi, et al.Journal of Human Genetics|May 31, 2022
Experimental method for haplotype phasing across the entire length of chromosome 21 in trisomy 21 cells using a chromosome elimination techniqueSachiko Wakita, Mari Hara, Yasuji Kitabatake, et al.Journal of Human Genetics|June 1, 2021
Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care actKaori Adachi, Kazuhito Satou, Eiji NanbaJournal of Human Genetics|June 10, 2021
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegiaDora Fabbro, Catia Mio, Federico Fogolari, et al.Journal of Human Genetics|March 11, 2020
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationshipsDamilola Olubando, Claire Hopton, James Eden, et al.Journal of Human Genetics|February 5, 2020
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesisCelia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al.Pageof 352