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Journal of Human Genetics|August 22, 2014
A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic studyYing Wang, Kishin Koh, Michiaki Miwa, et al.Journal of Human Genetics|August 22, 2014
Telomerase expression in amyotrophic lateral sclerosis (ALS) patientsBruna De Felice, Anna Annunziata, Giuseppe Fiorentino, et al.Journal of Human Genetics|March 11, 2016
Inheritance of the Bantu/Benin haplotype causes less severe hemolytic and oxidative stress in sickle cell anemia patients treated with hydroxycarbamideJéssika V Okumura, Danilo G H Silva, Lidiane S Torres, et al.Journal of Human Genetics|August 26, 2017
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndromeMiwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, et al.Journal of Human Genetics|September 1, 2017
Santos syndrome is caused by mutation in the WNT7A geneLeandro U Alves, Silvana Santos, Camila M Musso, et al.Journal of Human Genetics|September 1, 2017
A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki diseaseJae-Jung Kim, Sin Weon Yun, Jeong Jin Yu, et al.Journal of Human Genetics|July 28, 2017
The absence that makes the difference: choroidal abnormalities in Legius syndromeArianna Tucci, Veronica Saletti, Francesca Menni, et al.Journal of Human Genetics|May 13, 2016
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiencyShinta Saito, Aya Kurosawa, Noritaka AdachiJournal of Human Genetics|June 17, 2016
Long noncoding RNA variations in cardiometabolic diseasesSariya Dechamethakun, Masaaki MuramatsuJournal of Human Genetics|May 20, 2016
EED-associated overgrowth in a second male patientAna Sa Cohen, William T GibsonPageof 351