Works matching IS 10597794 AND DT 2021 AND VI 42 AND IP 9

Results: 11

Corrigendum.

Published in:: Human Mutation, 2021, v. 42, n. 9, p. 1184, doi. 10.1002/humu.24254
Publication type:: Article

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1165, doi. 10.1002/humu.24250

By:

Nykamp, Keith;
Truty, Rebecca;
Riethmaier, Darlene;
Wilkinson, Julia;
Bristow, Sara L.;
Aguilar, Sienna;
Neitzel, Dana;
Faulkner, Nicole;
Aradhya, Swaroop

Publication type:

Article

CanVaS: Documenting the genetic variation spectrum of Greek cancer patients.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1081, doi. 10.1002/humu.24249

By:

Kalfakakou, Despoina;
Fostira, Florentia;
Papathanasiou, Athanasios;
Apostolou, Paraskevi;
Dellatola, Vasiliki;
Gavra, Ioanna E.;
Vlachos, Ioannis S.;
Scouras, Zacharias G.;
Drosopoulou, Eleni;
Yannoukakos, Drakoulis;
Konstantopoulou, Irene

Publication type:

Article

Myopathy can be a key phenotype of membrin (GOSR2) deficiency.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1101, doi. 10.1002/humu.24247

By:

Stemmerik, Mads G.;
Borch, Josefine de S.;
Dunø, Morten;
Krag, Thomas;
Vissing, John

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2021, v. 42, n. 9, p. 1079, doi. 10.1002/humu.24046
Publication type:: Article

Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1153, doi. 10.1002/humu.24246

By:

Zhang, Ruixiao;
Chen, Zeqing;
Song, Qijing;
Wang, Sai;
Liu, Zhiying;
Zhao, Xiangzhong;
Shi, Xiaomeng;
Guo, Wencong;
Lang, Yanhua;
Bottillo, Irene;
Shao, Leping

Publication type:

Article

Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1107, doi. 10.1002/humu.24243

By:

Chong, Cheng‐Shoong;
Limviphuvadh, Vachiranee;
Maurer‐Stroh, Sebastian

Publication type:

Article

Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1139, doi. 10.1002/humu.24242

By:

Khan, Adnan H.;
Sutton, Janice;
Cree, Angela J.;
Khandhadia, Samir;
De Salvo, Gabriella;
Tobin, John;
Prakash, Priya;
Arora, Rashi;
Amoaku, Winfried;
Charbel Issa, Peter;
MacLaren, Robert E.;
Bishop, Paul N.;
Peto, Tunde;
Mohamed, Quresh;
Steel, David H.;
Sivaprasad, Sobha;
Bailey, Clare;
Menon, Geeta;
Kavanagh, David;
Lotery, Andrew J.

Publication type:

Article

Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1124, doi. 10.1002/humu.24241

By:

Gupta, Meenal;
Liu, Xiangfei;
Teraoka, Sharon N.;
Wright, Jocyndra A.;
Gatti, Richard A.;
Quinlan, Aaron;
Concannon, Patrick

Publication type:

Article

Genome sequencing in congenital cataracts improves diagnostic yield.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1173, doi. 10.1002/humu.24240

By:

Ma, Alan;
Grigg, John R.;
Flaherty, Maree;
Smith, James;
Minoche, Andre E.;
Cowley, Mark J.;
Nash, Benjamin M.;
Ho, Gladys;
Gayagay, Thet;
Lai, Tiffany;
Farnsworth, Elizabeth;
Hackett, Emma L.;
Slater, Katrina;
Wong, Karen;
Holman, Katherine J.;
Jenkins, Gemma;
Cheng, Anson;
Martin, Frank;
Brown, Natasha J.;
Leighton, Sarah E.

Publication type:

Article

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.

Published in:

Human Mutation, 2021, v. 42, n. 9, p. 1094, doi. 10.1002/humu.24245

By:

Semino, Francesca;
Schröter, Julian;
Willemsen, Marjolein H.;
Bast, Thomas;
Biskup, Saskia;
Beck‐Woedl, Stefanie;
Brennenstuhl, Heiko;
Schaaf, Christian P.;
Kölker, Stefan;
Hoffmann, Georg F.;
Haack, Tobias B.;
Syrbe, Steffen

Publication type:

Article