Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 3

Results: 14

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 380, doi. 10.1002/humu.24327
By:
- van Mazijk, Ralph;
- Haarman, Annechien E.G.;
- Hoefsloot, Lies H.;
- Polling, Jan R.;
- van Tienhoven, Marianne;
- Klaver, Caroline C.W.;
- Verhoeven, Virginie J.M.;
- Loudon, Sjoukje E.;
- Thiadens, Alberta A.H.J.;
- Kievit, Anneke J.A.
Publication type:
Article
Cover, Volume 43, Issue 3.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. i, doi. 10.1002/humu.24361
By:
- Gao, Yang;
- Wu, Huan;
- Xu, Yuping;
- Shen, Qunshan;
- Xu, Chuan;
- Geng, Hao;
- Lv, Mingrong;
- Tan, Qing;
- Li, Kuokuo;
- Tang, Dongdong;
- Song, Bing;
- Zhou, Ping;
- Wei, Zhaolian;
- He, Xiaojin;
- Cao, Yunxia
Publication type:
Article
Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 305, doi. 10.1002/humu.24330
By:
- Yang, Jennifer H.;
- Friederich, Marisa W.;
- Ellsworth, Katarzyna A.;
- Frederick, Aliya;
- Foreman, Emily;
- Malicki, Denise;
- Dimmock, David;
- Lenberg, Jerica;
- Prasad, Chitra;
- Yu, Andrea C.;
- Anthony Rupar, C.;
- Hegele, Robert A.;
- Manickam, Kandamurugu;
- Koboldt, Daniel C.;
- Crist, Erin;
- Choi, Samantha S.;
- Farhan, Sali M.K.;
- Harvey, Helen;
- Sattar, Shifteh;
- Karp, Natalya
Publication type:
Article
Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 299, doi. 10.1002/humu.24329
By:
- Gong, Pan;
- Liu, Jing;
- Jiao, Xianru;
- Niu, Yue;
- Wang, Jia;
- Wang, Xiaodong;
- Yang, Zhixian
Publication type:
Article
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 403, doi. 10.1002/humu.24326
By:
- Scala, Marcello;
- Wortmann, Saskia B.;
- Kaya, Namik;
- Stellingwerff, Menno D.;
- Pistorio, Angela;
- Glamuzina, Emma;
- van Karnebeek, Clara D.;
- Skrypnyk, Cristina;
- Iwanicka‐Pronicka, Katarzyna;
- Piekutowska‐Abramczuk, Dorota;
- Ciara, Elżbieta;
- Tort, Frederic;
- Sheidley, Beth;
- Poduri, Annapurna;
- Jayakar, Parul;
- Jayakar, Anuj;
- Upadia, Jariya;
- Walano, Nicolette;
- Haack, Tobias B.;
- Prokisch, Holger
Publication type:
Article
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 420, doi. 10.1002/humu.24325
By:
- Marko, Hannah L.;
- Hornig, Nadine C.;
- Betz, Regina C.;
- Holterhus, Paul‐Martin;
- Altmüller, Janine;
- Thiele, Holger;
- Fabiano, Marietta;
- Schweikert, Hans‐Udo;
- Braun, Doreen;
- Schweizer, Ulrich
Publication type:
Article
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 347, doi. 10.1002/humu.24324
By:
- Jordan, Penelope;
- Dorval, Guillaume;
- Arrondel, Christelle;
- Morinière, Vincent;
- Tournant, Carole;
- Audrezet, Marie‐Pierre;
- Michel‐Calemard, Laurence;
- Putoux, Audrey;
- Lesca, Gaethan;
- Labalme, Audrey;
- Whalen, Sandra;
- Loeuillet, Laurence;
- Martinovic, Jelena;
- Attie‐Bitach, Tania;
- Bessières, Bettina;
- Schaefer, Elise;
- Scheidecker, Sophie;
- Lambert, Laetitia;
- Beneteau, Claire;
- Patat, Olivier
Publication type:
Article
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 389, doi. 10.1002/humu.24323
By:
- Lebaron, Simon;
- O'Donohue, Marie‐Françoise;
- Smith, Scott C.;
- Engleman, Kendra L.;
- Juusola, Jane;
- Safina, Nicole P.;
- Thiffault, Isabelle;
- Saunders, Carol J.;
- Gleizes, Pierre‐Emmanuel
Publication type:
Article
Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 434, doi. 10.1002/humu.24322
By:
- Gao, Yang;
- Wu, Huan;
- Xu, Yuping;
- Shen, Qunshan;
- Xu, Chuan;
- Geng, Hao;
- Lv, Mingrong;
- Tan, Qing;
- Li, Kuokuo;
- Tang, Dongdong;
- Song, Bing;
- Zhou, Ping;
- Wei, Zhaolian;
- He, Xiaojin;
- Cao, Yunxia
Publication type:
Article
A decade of RAD51C and RAD51D germline variants in cancer.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 285, doi. 10.1002/humu.24319
By:
- Boni, Jacopo;
- Idani, Aida;
- Roca, Carla;
- Feliubadaló, Lidia;
- Tomiak, Eva;
- Weber, Evan;
- Foulkes, William D.;
- Orthwein, Alexandre;
- El Haffaf, Zaki;
- Lazaro, Conxi;
- Rivera, Barbara
Publication type:
Article
Generation and mutational analysis of a transgenic mouse model of human SRY.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 362, doi. 10.1002/humu.24318
By:
- Thomson, Ella;
- Zhao, Liang;
- Chen, Yen‐Shan;
- Longmuss, Enya;
- Ng, Ee Ting;
- Sreenivasan, Rajini;
- Croft, Brittany;
- Song, Xin;
- Sinclair, Andrew;
- Weiss, Michael;
- Koopman, Peter;
- Pelosi, Emanuele
Publication type:
Article
Distinct sequence features underlie microdeletions and gross deletions in the human genome.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 328, doi. 10.1002/humu.24314
By:
- Qi, Mengling;
- Stenson, Peter D.;
- Ball, Edward V.;
- Tainer, John A.;
- Bacolla, Albino;
- Kehrer‐Sawatzki, Hildegard;
- Cooper, David N.;
- Zhao, Huiying
Publication type:
Article
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 316, doi. 10.1002/humu.24313
By:
- Sebai, Molka;
- Tulasne, David;
- Caputo, Sandrine M.;
- Verkarre, Virginie;
- Fernandes, Marie;
- Guérin, Célia;
- Reinhart, Fanny;
- Adams, Séverine;
- Maugard, Christine;
- Caron, Olivier;
- Guillaud‐Bataille, Marine;
- Berthet, Pascaline;
- Bignon, Yves‐Jean;
- Bressac‐de Paillerets, Brigitte;
- Burnichon, Nelly;
- Chiesa, Jean;
- Giraud, Sophie;
- Lejeune, Sophie;
- Limacher, Jean‐Marc;
- de Pauw, Antoine
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2022, v. 43, n. 3, p. 283, doi. 10.1002/humu.24225
Publication type:
Article