Results 231 to 240 of about 157,645 (329)

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias

, 2013
Rui Chen, Silvia Giliani, Gaetana Lanzi, George I. Mias, Silvia Lonardi, Kerry Dobbs, John P. Manis, Hogune Im, Jennifer E.G. Gallagher, Douglas H. Phanstiel, Ghia Euskirchen, Philippe Lacroute, Keith Bettinger, Daniele Moratto, Katja G. Weinacht, Davide Montin, Eleonora Gallo, Giovanna Mangili, Fulvio Porta, Lucia Dora Notarangelo, Stefania Pedretti, Waleed Al‐Herz, Wasmi Alfahdli, Anne Marie Comeau, Russell S. Traister, Sung‐Yun Pai, Graziella Carella, Fabio Facchetti, Kari C. Nadeau, M Snyder, Luigi D. Notarangelo   +30 more
openalex   +1 more source

CANOES: detecting rare copy number variants from whole exome sequencing data [PDF]

, 2014
Daniel Backenroth, Jason Homsy, Laura Rodriguez Murillo, Joseph Glessner, Edwin Lin, Martina Brueckner, Richard P. Lifton, Elizabeth Goldmuntz, Wendy K. Chung, Yufeng Shen   +9 more
openalex   +1 more source

Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing. [PDF]

Front Endocrinol (Lausanne)
Zhang N, You S, Guo J, Chang X, Qiu J, Hua K.   +5 more
europepmc   +1 more source

Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing [PDF]

, 2014
Guangqian Xing, Jun Yao, Bin Wu, Tingting Liu, Qinjun Wei, Cheng Liu, Yajie Lu, Zhibin Chen, Heng Zheng, Xiaonan Yang, Xin Cao   +10 more
openalex   +1 more source

Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis. [PDF]

Clin Rheumatol
Ozer L, Koksal H.
europepmc   +1 more source

Whole genome and exome sequencing of monozygotic twins discordant for Crohn’s disease [PDF]

, 2014
Britt‐Sabina Petersen, Martina E. Spehlmann, Andreas Raedler, Björn Stade, Ingo Thomsen, Raquel Rabionet, Philip Rosenstiel, Stefan Schreiber, André Franke   +8 more
openalex   +1 more source

The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia. [PDF]

Int J Mol Sci
Glotov OS, Zhuchenko NA, Balashova MS, Raspopova AN, Tsai VV, Chernov AN, Chuiko IV, Danilov LG, Morozova LD, Glotov AS.   +9 more
europepmc   +1 more source

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

, 2013
Ferrán Casals, Alan Hodgkinson, Julie Hussin, Youssef Idaghdour, Vanessa Bruat, Thibault de Maillard, Jean‐Christophe Grenier, Elias Gbeha, Fadi F. Hamdan, Simon Girard, Jean-François Spinella, Mathieu Larivière, Virginie Saillour, Jasmine Healy, Isabel Fernández, Daniel Sinnett, Jacques L. Michaud, Guy A. Rouleau, Élie Haddad, Françoise Le Deist, Philip Awadalla   +20 more
openalex   +2 more sources

Comparative analysis of whole exome sequencing kits for the canine genome. [PDF]

PLoS One
Jang J, Lee YJ, Ko S, Abd El-Aty AM, Gecili I, Jeong JH, Kwon C, Jung TW.   +7 more
europepmc   +1 more source

CEQer: A Graphical Tool for Copy Number and Allelic Imbalance Detection from Whole-Exome Sequencing Data

, 2013
Rocco Piazza, Vera Magistroni, Alessandra Pirola, Sara Redaelli, Roberta Spinelli, Serena Redaelli, Marta Galbiati, Simona Valletta, Giovanni De Giudici, Giovanni Cazzaniga, Carlo Gambacorti‐Passerini   +10 more
openalex   +2 more sources