Results 131 to 140 of about 215,208 (174)
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness [PDF]
, 2012 Isabelle Audo, Kinga M. Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean‐Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand‐Saïd, Birgit Lorenz, Christoph Friedburg, Markus N. Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova‐Doumanova, Wolfgang Berger, Bernd Wissinger, Christian Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylène Le Meur, Ingele Casteels, Robert K. Koenekoop, Vernon Long, Françoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Anh Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim T. Nguyen-Ba-Charvet, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz +51 moreopenalex +1 more sourceDiagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
JAMA Netw OpenLan X, Tang X, Weng W, Xu W, Song X, Yang Y, Sun H, Ye H, Zhang H, Yu G, Wu S. +10 moreeuropepmc +1 more sourceExome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA. [PDF]
Sci RepTábuas-Pereira M, Brás J, Taipa R, Del Tredici K, Paquette K, Chaudhry S, DenHaan K, Durães J, Lima M, Bernardes C, Carmona S, Baldeiras I, Almeida R, Santana I, Guerreiro R. +14 moreeuropepmc +1 more sourceExome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders. [PDF]
NPJ Genom MedHan H, Seo GH, Hyun SI, Kwon K, Ryu SW, Khang R, Lee E, Kim J, Song Y, Jeong WC, Han J, Kim DW, Yang S, Lee S, Jang S, Lee J, Lee H. +16 moreeuropepmc +1 more sourceDe novo mutations revealed by whole-exome sequencing are strongly associated with autism
, 2012 Stephan Sanders, Michael T. Murtha, Abha R. Gupta, John D. Murdoch, Melanie J. Raubeson, A. Jeremy Willsey, A. Gulhan Ercan‐Sencicek, Nicholas M. DiLullo, Neelroop Parikshak, Jason L. Stein, Michael F. Walker, G Ober, Nicole A. Teran, Youeun Song, Paul El-Fishawy, Ryan Murtha, Murim Choi, John D. Overton, Robert Bjornson, Nicholas Carriero, Kyle A. Meyer, Kaya Bilgüvar, Shrikant Mane, Nenad Šestan, Richard P. Lifton, Murat Günel, Kathryn Roeder, Daniel H. Geschwind, Bernie Devlin, Matthew W. State +29 moreopenalex +2 more sourcesExome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. [PDF]
Sci RepBüyükgöl F, Gürdamar B, Aluçlu MU, Beckmann Y, Bilguvar K, Boz C, Bülbül A, Bünül SD, Çetin Ö, Demir CF, Demir S, Duman T, Efendi H, Ekmekçi Ö, Ertetik U, Ethemoğlu Ö, Everest E, Gümüş H, Gündüz T, Karabudak R, Karaman B, Kürtüncü M, Mutluer M, Reda MD, Saip S, Seferoğlu M, Sever E, Sezerman OU, Şen S, Taşdelen B, Tecellioğlu M, Terzi M, Tuncer A, Turan ÖF, Tütüncü M, Uncu G, Uygunoğlu U, Uzunköprü C, Voyvoda U, Yetkin MF, Yüceyar N, Siva A, Turanlı ET. +42 moreeuropepmc +1 more sourceInput of exome sequencing in early-onset cerebral amyloid angiopathy. [PDF]
Alzheimers Dement (Amst)Grangeon L, Charbonnier C, Rousseau S, Richard AC, Quenez O, Zarea A, Boland A, Olaso R, Deleuze JF, CAA study group, Tournier-Lasserve E, Nicolas G, Wallon D. +12 moreeuropepmc +1 more source
