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