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Molecular Genetics & Genomic Medicine|February 24, 2021
Association of MACROD2 gene variants with obesity and physical activity in a Korean populationHye-Rim Kim, Hyun-Seok Jin, Yong-Bin Eom
Molecular Genetics & Genomic Medicine|February 24, 2021
High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysisRussell J Butterfield, Carina Imburgia, Katie Mayne, et al.
Molecular Genetics & Genomic Medicine|August 3, 2019
Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in ChinaYu Zhang, Zhirong Wang, Sijian Huang, et al.
Molecular Genetics & Genomic Medicine|August 4, 2019
Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndromeBixia Zheng, Qiuxia Chen, Chunli Wang, et al.
Molecular Genetics & Genomic Medicine|August 4, 2019
Research participants' experiences with return of genetic research results and preferences for web-based alternativesJill B Gaieski, Linda Patrick-Miller, Brian L Egleston, et al.
Molecular Genetics & Genomic Medicine|August 8, 2019
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defectsKitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapyFoudil Lamari, Wladimir Mauhin, Fairouz Koraichi, et al.
Molecular Genetics & Genomic Medicine|August 10, 2019
Novel IFT140 variants cause spermatogenic dysfunction in humansXiong Wang, Yan-Wei Sha, Wen-Ting Wang, et al.
Molecular Genetics & Genomic Medicine|August 31, 2019
Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS)Malú Zamariolli, Mileny Colovati, Mariana Moysés-Oliveira, et al.
Molecular Genetics & Genomic Medicine|September 3, 2019
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypesMuhammad M Rahman, Km Furkan Uddin, Nesreen K Al Jezawi, et al.
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