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

Results: 16

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
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
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
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
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
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
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
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
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
Contents.
Published in:
2015
Publication type:
Other
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
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
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