Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 4

Results: 16

The Transcription-Coupled Repair Protein ERCC6/CSB Also Protects Against Repeat Expansion in a Mouse Model of the Fragile X Premutation.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 482, doi. 10.1002/humu.22777

By:

Zhao, Xiao‐Nan;
Usdin, Karen

Publication type:

Article

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 454, doi. 10.1002/humu.22761

By:

Gil‐Rodríguez, María Concepción;
Deardorff, Matthew A.;
Ansari, Morad;
Tan, Christopher A.;
Parenti, Ilaria;
Baquero‐Montoya, Carolina;
Ousager, Lilian B.;
Puisac, Beatriz;
Hernández‐Marcos, María;
Teresa‐Rodrigo, María Esperanza;
Marcos‐Alcalde, Iñigo;
Wesselink, Jan‐Jaap;
Lusa‐Bernal, Silvia;
Bijlsma, Emilia K.;
Braunholz, Diana;
Bueno‐Martinez, Inés;
Clark, Dinah;
Cooper, Nicola S.;
Curry, Cynthia J.;
Fisher, Richard

Publication type:

Article

Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 443, doi. 10.1002/humu.22760

By:

Puppo, Francesca;
Dionnet, Eugenie;
Gaillard, Marie‐Cécile;
Gaildrat, Pascaline;
Castro, Christel;
Vovan, Catherine;
Bertaux, Karine;
Bernard, Rafaelle;
Attarian, Shahram;
Goto, Kanako;
Nishino, Ichizo;
Hayashi, Yukiko;
Magdinier, Frédérique;
Krahn, Martin;
Helmbacher, Françoise;
Bartoli, Marc;
Lévy, Nicolas

Publication type:

Article

Ampli Var: Mutation Detection in High-Throughput Sequence from Amplicon-Based Libraries.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 411, doi. 10.1002/humu.22763

By:

Hsu, Arthur L.;
Kondrashova, Olga;
Lunke, Sebastian;
Love, Clare J.;
Meldrum, Cliff;
Marquis‐Nicholson, Renate;
Corboy, Greg;
Pham, Kym;
Wakefield, Matthew;
Waring, Paul M.;
Taylor, Graham R.

Publication type:

Article

Mutations in Collagen, Type XVII, Alpha 1 ( COL17A1) Cause Epithelial Recurrent Erosion Dystrophy (ERED).

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 463, doi. 10.1002/humu.22764

By:

Jonsson, Frida;
Byström, Berit;
Davidson, Alice E.;
Backman, Ludvig J.;
Kellgren, Therese G.;
Tuft, Stephen J.;
Koskela, Timo;
Rydén, Patrik;
Sandgren, Ola;
Danielson, Patrik;
Hardcastle, Alison J.;
Golovleva, Irina

Publication type:

Article

The ARVD/C Genetic Variants Database: 2014 Update.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 403, doi. 10.1002/humu.22765

By:

Lazzarini, Elisabetta;
Jongbloed, Jan D. H.;
Pilichou, Kalliopi;
Thiene, Gaetano;
Basso, Cristina;
Bikker, Hennie;
Charbon, Bart;
Swertz, Morris;
Tintelen, J. Peter;
der Zwaag, Paul A.

Publication type:

Article

mit-o-matic: A Comprehensive Computational Pipeline for Clinical Evaluation of Mitochondrial Variations from Next-Generation Sequencing Datasets.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 419, doi. 10.1002/humu.22767

By:

Vellarikkal, Shamsudheen Karuthedath;
Dhiman, Heena;
Joshi, Kandarp;
Hasija, Yasha;
Sivasubbu, Sridhar;
Scaria, Vinod

Publication type:

Article

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 425, doi. 10.1002/humu.22769

By:

Sobreira, Nara;
Schiettecatte, François;
Boehm, Corinne;
Valle, David;
Hamosh, Ada

Publication type:

Article

The Ultimate Guide to DMD Variants.

Published in:

2015

By:

Oetting, William S.

Publication type:

Other

Shaken, Not Stirred Collagen in Corneal Dystrophy.

Published in:

2015

By:

Schorderet, Daniel F.

Publication type:

Other

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 395, doi. 10.1002/humu.22758

By:

Bladen, Catherine L.;
Salgado, David;
Monges, Soledad;
Foncuberta, Maria E.;
Kekou, Kyriaki;
Kosma, Konstantina;
Dawkins, Hugh;
Lamont, Leanne;
Roy, Anna J.;
Chamova, Teodora;
Guergueltcheva, Velina;
Chan, Sophelia;
Korngut, Lawrence;
Campbell, Craig;
Dai, Yi;
Wang, Jen;
Barišić, Nina;
Brabec, Petr;
Lahdetie, Jaana;
Walter, Maggie C.

Publication type:

Article

Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 439, doi. 10.1002/humu.22759

By:

Reinstein, Eyal;
Orvin, Katia;
Tayeb‐Fligelman, Einav;
Stiebel‐Kalish, Hadas;
Tzur, Shay;
Pimienta, Allen L.;
Bazak, Lily;
Bengal, Tuvia;
Cohen, Lior;
Gaton, Dan D.;
Bormans, Concetta;
Landau, Meytal;
Kornowski, Ran;
Shohat, Mordechai;
Behar, Doron M.

Publication type:

Article

Oncotator: Cancer Variant Annotation Tool.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. E2423, doi. 10.1002/humu.22771

By:

Ramos, Alex H.;
Lichtenstein, Lee;
Gupta, Manaswi;
Lawrence, Michael S.;
Pugh, Trevor J.;
Saksena, Gordon;
Meyerson, Matthew;
Getz, Gad

Publication type:

Article

GeneYenta: A PhenotypeBased Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 432, doi. 10.1002/humu.22772

By:

Gottlieb, Michael M.;
Arenillas, David J.;
Maithripala, Savanie;
Maurer, Zachary D.;
TarailoGraovac, Maja;
Armstrong, Linlea;
Patel, Millan;
Karnebeek, Clara;
Wasserman, Wyeth W.

Publication type:

Article

Heterozygous Mutations in Natriuretic Peptide Receptor-B ( NPR2) Gene as a Cause of Short Stature.

Published in:

Human Mutation, 2015, v. 36, n. 4, p. 474, doi. 10.1002/humu.22773

By:

Wang, Sophie R.;
Jacobsen, Christina M.;
Carmichael, Heather;
Edmund, Aaron B.;
Robinson, Jerid W.;
Olney, Robert C.;
Miller, Timothy C.;
Moon, Jennifer E.;
Mericq, Veronica;
Potter, Lincoln R.;
Warman, Matthew L.;
Hirschhorn, Joel N.;
Dauber, Andrew

Publication type:

Article

Contents.

Published in:: 2015
Publication type:: Other