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

Results: 12

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
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
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
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
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
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
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
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
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
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
Contents.
Published in:
2015
Publication type:
Other