Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 8

Results: 12

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 753, doi. 10.1002/humu.22797

By:

Aoyagi, Kyota;
Rossignol, Elsa;
Hamdan, Fadi F.;
Mulcahy, Ben;
Xie, Lin;
Nagamatsu, Shinya;
Rouleau, Guy A.;
Zhen, Mei;
Michaud, Jacques L.

Publication type:

Article

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 815, doi. 10.1002/humu.22813

By:

Lelieveld, Stefan H.;
Spielmann, Malte;
Mundlos, Stefan;
Veltman, Joris A.;
Gilissen, Christian

Publication type:

Article

Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 797, doi. 10.1002/humu.22814

By:

Chung, Jonathan H.;
Cai, Jinlu;
Suskin, Barrie G.;
Zhang, Zhengdong;
Coleman, Karlene;
Morrow, Bernice E.

Publication type:

Article

Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 758, doi. 10.1002/humu.22815

By:

Su, Peiqiang;
Wang, Ye;
Cooper, David N.;
Zhu, Wenjuan;
Huang, Dongsheng;
Férec, Claude;
Wang, Yiming;
Chen, Jian‐Min

Publication type:

Article

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 787, doi. 10.1002/humu.22809

By:

Martinelli, Simone;
Stellacci, Emilia;
Pannone, Luca;
D'Agostino, Daniela;
Consoli, Federica;
Lissewski, Christina;
Silvano, Marianna;
Cencelli, Giulia;
Lepri, Francesca;
Maitz, Silvia;
Pauli, Silke;
Rauch, Anita;
Zampino, Giuseppe;
Selicorni, Angelo;
Melançon, Serge;
Digilio, Maria C.;
Gelb, Bruce D.;
Luca, Alessandro;
Dallapiccola, Bruno;
Zenker, Martin

Publication type:

Article

Contents.

Published in:: 2015
Publication type:: Other

The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. E2430, doi. 10.1002/humu.22803

By:

Mitsuyama, Susumu;
Ohtsubo, Masafumi;
Minoshima, Shinsei;
Shimizu, Nobuyoshi

Publication type:

Article

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 743, doi. 10.1002/humu.22804

By:

Mansour‐Hendili, Lamisse;
Blanchard, Anne;
Pottier, Nelly;
Roncelin, Isabelle;
Lourdel, Stéphane;
Treard, Cyrielle;
González, Wendy;
Vergara‐Jaque, Ariela;
Morin, Gilles;
Colin, Estelle;
Holder‐Espinasse, Muriel;
Bacchetta, Justine;
Baudouin, Véronique;
Benoit, Stéphane;
Bérard, Etienne;
Bourdat‐Michel, Guylhène;
Bouchireb, Karim;
Burtey, Stéphane;
Cailliez, Mathilde;
Cardon, Gérard

Publication type:

Article

An Interdomain KCNH2 Mutation Produces an Intermediate Long QT Syndrome.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 764, doi. 10.1002/humu.22805

By:

Osterbur, Marika L.;
Zheng, Renjian;
Marion, Robert;
Walsh, Christine;
McDonald, Thomas V.

Publication type:

Article

Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 774, doi. 10.1002/humu.22808

By:

Fiesel, Fabienne C.;
Caulfield, Thomas R.;
Moussaud‐Lamodière, Elisabeth L.;
Ogaki, Kotaro;
Dourado, Daniel F.A.R.;
Flores, Samuel C.;
Ross, Owen A.;
Springer, Wolfdieter

Publication type:

Article

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 808, doi. 10.1002/humu.22802

By:

Proost, Dorien;
Vandeweyer, Geert;
Meester, Josephina A.N.;
Salemink, Simone;
Kempers, Marlies;
Ingram, Christie;
Peeters, Nils;
Saenen, Johan;
Vrints, Christiaan;
Lacro, Ronald V.;
Roden, Dan;
Wuyts, Wim;
Dietz, Harry C.;
Mortier, Geert;
Loeys, Bart L.;
Laer, Lut

Publication type:

Article

In Memoriam: Richard G.H. Cotton (1940-2015).

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 741, doi. 10.1002/humu.22826

By:

Kazazian Jr., Haig H.;
Paalman, Mark H.;
Cutting, Garry R.

Publication type:

Article