Works matching IS 10597794 AND DT 2015 AND VI 36 AND IP 9

Results: 12

Beckwith-Wiedemann Syndrome Revisited.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. iii, doi. 10.1002/humu.22662

By:

Soussi‐Zander, Cecilia

Publication type:

Article

KIAA0586 is Mutated in Joubert Syndrome.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 831, doi. 10.1002/humu.22821

By:

Bachmann‐Gagescu, Ruxandra;
Phelps, Ian G.;
Dempsey, Jennifer C.;
Sharma, Vivek A.;
Ishak, Gisele E.;
Boyle, Evan A.;
Wilson, Meredith;
Marques Lourenço, Charles;
Arslan, Mutluay;
Shendure, Jay;
Doherty, Dan

Publication type:

Article

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 836, doi. 10.1002/humu.22822

By:

Lazar, Csilla H.;
Kimchi, Adva;
Namburi, Prasanthi;
Mutsuddi, Mousumi;
Zelinger, Lina;
Beryozkin, Avigail;
Ben‐Simhon, Shiran;
Obolensky, Alexey;
Ben‐Neriah, Ziva;
Argov, Zohar;
Pikarsky, Eli;
Fellig, Yakov;
Marks‐Ohana, Devorah;
Ratnapriya, Rinki;
Banin, Eyal;
Sharon, Dror;
Swaroop, Anand

Publication type:

Article

Somatic Mutations in Catalytic Core of POLK Reported in Prostate Cancer Alter Translesion DNA Synthesis.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 873, doi. 10.1002/humu.22820

By:

Yadav, Santosh;
Mukhopadhyay, Sudurkia;
Anbalagan, Muralidharan;
Makridakis, Nick

Publication type:

Article

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 894, doi. 10.1002/humu.22824

By:

Brioude, Frederic;
Netchine, Irène;
Praz, Francoise;
Jule, Marilyne;
Calmel, Claire;
Lacombe, Didier;
Edery, Patrick;
Catala, Martin;
Odent, Sylvie;
Isidor, Bertrand;
Lyonnet, Stanislas;
Sigaudy, Sabine;
Leheup, Bruno;
Audebert‐Bellanger, Séverine;
Burglen, Lydie;
Giuliano, Fabienne;
Alessandri, Jean‐Luc;
Cormier‐Daire, Valérie;
Laffargue, Fanny;
Blesson, Sophie

Publication type:

Article

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 881, doi. 10.1002/humu.22823

By:

Arredondo, Juan;
Lara, Marian;
Gospe, Sídney M.;
Mazia, Claudio G.;
Vaccarezza, Maria;
Garcia‐Erro, Marcela;
Bowe, Constance M.;
Chang, Celia H.;
Mezei, Michelle M.;
Maselli, Ricardo A.

Publication type:

Article

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 842, doi. 10.1002/humu.22816

By:

Addis, Laura;
Ahn, Joo Wook;
Dobson, Richard;
Dixit, Abhishek;
Ogilvie, Caroline M;
Pinto, Dalila;
Vaags, Andrea K;
Coon, Hilary;
Chaste, Pauline;
Wilson, Scott;
Parr, Jeremy R;
Andrieux, Joris;
Lenne, Bruno;
Tumer, Zeynep;
Leuzzi, Vincenzo;
Aubell, Kristina;
Koillinen, Hannele;
Curran, Sarah;
Marshall, Christian R;
Scherer, Stephen W

Publication type:

Article

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 903, doi. 10.1002/humu.22825

By:

Samorodnitsky, Eric;
Jewell, Benjamin M.;
Hagopian, Raffi;
Miya, Jharna;
Wing, Michele R.;
Lyon, Ezra;
Damodaran, Senthilkumar;
Bhatt, Darshna;
Reeser, Julie W.;
Datta, Jharna;
Roychowdhury, Sameek

Publication type:

Article

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 851, doi. 10.1002/humu.22817

By:

Yuste‐Checa, Patricia;
Gámez, Alejandra;
Brasil, Sandra;
Desviat, Lourdes R.;
Ugarte, Magdalena;
Pérez‐Cerdá, Celia;
Pérez, Belén

Publication type:

Article

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ' de novo' SCN1A Mutations in Children with Dravet Syndrome.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 861, doi. 10.1002/humu.22819

By:

Xu, Xiaojing;
Yang, Xiaoxu;
Wu, Qixi;
Liu, Aijie;
Yang, Xiaoling;
Ye, Adam Yongxin;
Huang, August Yue;
Li, Jiarui;
Wang, Meng;
Yu, Zhe;
Wang, Sheng;
Zhang, Zhichao;
Wu, Xiru;
Wei, Liping;
Zhang, Yuehua

Publication type:

Article

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 823, doi. 10.1002/humu.22818

By:

Watson, Christopher M.;
Crinnion, Laura A.;
Gurgel‐Gianetti, Juliana;
Harrison, Sally M.;
Daly, Catherine;
Antanavicuite, Agne;
Lascelles, Carolina;
Markham, Alexander F.;
Pena, Sergio D. J.;
Bonthron, David T.;
Carr, Ian M.

Publication type:

Article

Contents.

Published in:: 2015
Publication type:: Other