Results 181 to 190 of about 187,376 (271)

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

Hypertrophic cardiomyopathy combined with renal and adrenal aplasia in a male with Noonan syndrome from RAF1 variant

ESC Heart Failure, EarlyView.
Ying Wang, Guizhou Ma, Dianyu Cai, Jierong Yao, Bingying Huang, Chaojian Wu, Xiaoling Liu, Zhixiong Cai   +7 more
wiley   +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-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

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

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

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

Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

, 2013
Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per M. Knappskog, Laurence A. Bindoff   +5 more
openalex   +2 more sources

Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues: Table 1 [PDF]

, 2014
Nina Hallowell, Alison Hall, Corinna Alberg, Ron Zimmern   +3 more
openalex   +1 more source