Results 81 to 90 of about 1,119,935 (184)

Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy

Human Genome Variation
We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p ...
Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, NCBN Controls WGS Consortium, Yoshihisa Yamano   +8 more
doaj   +1 more source

Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project. [PDF]

Kidney Int Rep, 2023
Huang Z, Shen Q, Wu B, Wang H, Dong X, Lu Y, Cheng G, Wang L, Lu W, Chen L, Kang W, Li L, Pan X, Wei Q, Zhuang D, Chen D, Yin Z, Yang L, Ni Q, Liu R, Li G, Zhang P, Qian Y, Peng X, Wang Y, Cao Y, Xu H, Hu L, Yang L, Zhou W.   +29 more
europepmc   +1 more source

Initiation of the Primate Genome Project. [PDF]

Zool Res, 2022
Wu DD, Qi XG, Yu L, Li M, Liu ZJ, Yoder AD, Roos C, Hayakawa T, Rogers J, Marques-Bonet T, Su B, Yao YG, Zhang YP, Zhang G.   +13 more
europepmc   +1 more source

Evaluation of recombination rate of microhaplotypes based on the 1000 Genomes Project family data [PDF]

, 2023
Yifan Wei, Xi Li, Tiantian Shan, Haoyu Wang, Xuan Dai, Qiang Zhu, Yufang Wang, Ji Zhang   +7 more
openalex   +1 more source

The Sphagnum Genome Project [PDF]

, 2016
Altschul, Andrus, Beike, Benfey, Bower, Chiang, Clymo, Cornelissen, Dhondt, Erxleben, Floyd, Gorham, Grabherr, Graham, Granath, Greb, Haas, Haeckel, Haig, Hajek, Hohe, Johnson, Johnson, Kamisugi, Karlin, Kendrick, Knack, Kyrkjeeide, Langmead, Li, Lindo, Liu, McQueen, Qiu, Redecker, Rensing, Ricca, Rubinstein, Rydin, Rydin, Sarnighausen, Shaw, Shaw, Simola, Steemans, Turetsky, van Breemen, Viaene, Vitt, Wang, Waters, Wellman, Weston, Wickett, Wu, Yu   +55 more
core   +1 more source

An endosymbiont harvest: Phylogenomic analysis of Wolbachia genomes from the Darwin Tree of Life biodiversity genomics project [PDF]

, 2022
Emmelien Vancaester, Mark Blaxter
openalex   +1 more source

The International Human Genome Project. [PDF]

Hum Mol Genet, 2021
Birney E.
europepmc   +1 more source

Oman Genome Project is the Future of Using Genomics as the Determinant of Health and Disease in the Society. [PDF]

Oman Med J, 2022
Al-Maawali A.
europepmc   +1 more source

Decoding psychosis: from national genome project to national brain project. [PDF]

Gen Psychiatr, 2022
Sun L, Xu M, Shi Y, Xu Y, Chen J, He L.
europepmc   +1 more source

Genome project [PDF]

, 1991
S. John Pirt
openalex   +1 more source