Showing results (5591-5600 of 5,829) with videos related to
Sort By:
Pageof 583
Human Mutation|October 19, 2022
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic associationAiysha Abid, Ali Raza, Tahir Aziz, et al.Human Mutation|October 26, 2022
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencingAkiko Suga, Kazutoshi Yoshitake, Naoko Minematsu, et al.Human Mutation|September 22, 2022
Rare surfactant-related variants in familial and sporadic pulmonary fibrosisRachel M Sutton, Humberto Trejo Bittar, Daniel I Sullivan, et al.Human Mutation|September 2, 2022
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanismsMarlies Colman, Robin Vroman, Tibbe Dhooge, et al.Human Mutation|September 2, 2022
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes ProjectJeffrey K Ng, Pankaj Vats, Elyn Fritz-Waters, et al.Human Mutation|September 15, 2022
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndromeFabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, et al.Human Mutation|September 18, 2022
Human Mutation special issue on innovations in genomic diagnosticsStuart A Scott, Kai Wang, Nancy B SpinnerHuman Mutation|September 18, 2022
Mutation update for the ACTN2 geneJohanna Ranta-Aho, Montse Olive, Marie Vandroux, et al.Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.Human Mutation|September 2, 2022
CIC missense variants contribute to susceptibility for spina bifidaXiao Han, Xuanye Cao, Vanessa Aguiar-Pulido, et al.Pageof 583