Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 7

Results: 14

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1220, doi. 10.1002/humu.24021
By:
- Boussion, Simon;
- Escande, Fabienne;
- Jourdain, Anne‐Sophie;
- Smol, Thomas;
- Brunelle, Perrine;
- Duhamel, Céline;
- Alembik, Yves;
- Attié‐Bitach, Tania;
- Baujat, Geneviève;
- Bazin, Anne;
- Bonnière, Maryse;
- Carassou, Philippe;
- Carles, Dominique;
- Devisme, Louise;
- Goizet, Cyril;
- Goldenberg, Alice;
- Grotto, Sarah;
- Guichet, Agnès;
- Jouk, Pierre‐Simon;
- Loeuillet, Laurence
Publication type:
Article
Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1250, doi. 10.1002/humu.24010
By:
- Angel, Guillermo;
- Reynders, John;
- Negron, Christopher;
- Steinbrecher, Thomas;
- Mornet, Etienne
Publication type:
Article
The EAHAD blood coagulation factor VII variant database.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1209, doi. 10.1002/humu.24025
By:
- Giansily‐Blaizot, Muriel;
- Rallapalli, Pavithra M.;
- Perkins, Stephen J.;
- Kemball‐Cook, Geoffrey;
- Hampshire, Daniel J.;
- Gomez, Keith;
- Ludlam, Christopher A.;
- McVey, John H.
Publication type:
Article
Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1232, doi. 10.1002/humu.24024
By:
- Galatolo, Daniele;
- Kuo, Molly E.;
- Mullen, Patrick;
- Meyer‐Schuman, Rebecca;
- Doccini, Stefano;
- Battini, Roberta;
- Lieto, Maria;
- Tessa, Alessandra;
- Filla, Alessandro;
- Francklyn, Christopher;
- Antonellis, Anthony;
- Santorelli, Filippo M.
Publication type:
Article
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1226, doi. 10.1002/humu.24022
By:
- Kluwe, Lan;
- Friedrich, Reinhard E.;
- Farschtschi, Said C.;
- Hagel, Christian;
- Kehrer‐Sawatzki, Hildegard;
- Mautner, Victor‐Felix
Publication type:
Article
An update on genetic variants of the NKX2‐5.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1187, doi. 10.1002/humu.24030
By:
- Kolomenski, Jorge E.;
- Delea, Marisol;
- Simonetti, Leandro;
- Fabbro, Mónica C.;
- Espeche, Lucía D.;
- Taboas, Melisa;
- Nadra, Alejandro D.;
- Bruque, Carlos D.;
- Dain, Liliana
Publication type:
Article
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1329, doi. 10.1002/humu.24026
By:
- Gallego, Diana;
- Leal, Fátima;
- Gámez, Alejandra;
- Castro, Margarita;
- Navarrete, Rosa;
- Sanchez‐Lijarcio, Obdulia;
- Vitoria, Isidro;
- Bueno‐Delgado, María;
- Belanger‐Quintana, Amaya;
- Morais, Ana;
- Pedrón‐Giner, Consuelo;
- García, Inmaculada;
- Campistol, Jaume;
- Artuch, Rafael;
- Alcaide, Carlos;
- Cornejo, Veronica;
- Gil, David;
- Yahyaoui, Raquel;
- Desviat, Lourdes R.;
- Ugarte, Magdalena
Publication type:
Article
Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1238, doi. 10.1002/humu.24009
By:
- Ballout, Rami A.;
- Dickerson, Cheryl;
- Wick, Myra J.;
- Al‐Sweel, Najla;
- Openshaw, Amanda S.;
- Srivastava, Siddharth;
- Swanson, Lindsay C.;
- Bramswig, Nuria C.;
- Kuechler, Alma;
- Hong, Bo;
- Fleming, Leah R.;
- Curry, Kathryn;
- Robertson, Stephen P.;
- Andersen, Erica F.;
- El‐Hattab, Ayman W.
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1185, doi. 10.1002/humu.23811
Publication type:
Article
Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1298, doi. 10.1002/humu.24014
By:
- Hu, June Y.;
- Yang, Ping;
- Wegner, Daniel J.;
- Heins, Hillary B.;
- Luke, Cliff J.;
- Li, Fuhai;
- White, Frances V.;
- Silverman, Gary A.;
- Sessions Cole, F.;
- Wambach, Jennifer A.
Publication type:
Article
A protective polymorphism in MMP16, improved blood gas levels, and chronic obstructive pulmonary diseases: Family and two population‐based studies.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1280, doi. 10.1002/humu.24013
By:
- Zhang, Zili;
- Wang, Jian;
- Zheng, Zeguang;
- Chen, Xindong;
- Xu, Guihua;
- Chen, Sifan;
- Liu, Fei;
- Chen, Lingdan;
- Ding, Mingjing;
- Yuan, Liang;
- Li, Yuanyuan;
- Qian, Jing;
- Xie, Xiaohui;
- Deng, Bingxian;
- Lu, Wenju
Publication type:
Article
Disease‐causing missense mutations within the N‐terminal transmembrane domain of GlcNAc‐1‐phosphotransferase impair endoplasmic reticulum translocation or Golgi retention.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1321, doi. 10.1002/humu.24019
By:
- Lee, Wang‐Sik;
- Jennings, Benjamin C.;
- Doray, Balraj;
- Kornfeld, Stuart
Publication type:
Article
Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1308, doi. 10.1002/humu.24016
By:
- Gil‐Varea, Elia;
- Spataro, Nino;
- Villar, Luisa María;
- Tejeda‐Velarde, Amalia;
- Midaglia, Luciana;
- Matesanz, Fuencisla;
- Malhotra, Sunny;
- Eixarch, Herena;
- Patsopoulos, Nikolaos;
- Fernández, Óscar;
- Oliver‐Martos, Begoña;
- Saiz, Albert;
- Llufriu, Sara;
- Ramió‐Torrentà, Lluís;
- Quintana, Ester;
- Izquierdo, Guillermo;
- Alcina, Antonio;
- Bosch, Elena;
- Navarro, Arcadi;
- Montalban, Xavier
Publication type:
Article
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1263, doi. 10.1002/humu.24015
By:
- Carvill, Gemma L.;
- Helbig, Katherine L.;
- Myers, Candace T.;
- Scala, Marcello;
- Huether, Robert;
- Lewis, Sara;
- Kruer, Tyler N.;
- Guida, Brandon S.;
- Bakhtiari, Somayeh;
- Sebe, Joy;
- Tang, Sha;
- Stickney, Heather;
- Oktay, Sehribani Ulusoy;
- Bhandiwad, Ashwin A.;
- Ramsey, Keri;
- Narayanan, Vinodh;
- Feyma, Timothy;
- Rohena, Luis O.;
- Accogli, Andrea;
- Severino, Mariasavina
Publication type:
Article