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Showing 61 - 72 of 13316 results
Publication

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Heon Yung Gee, Edgar A Otto, Toby W Hurd, Shazia Ashraf, Moumita Chaki, Andrew Cluckey, Virginia Vega-Warner, Pawaree Saisawat, Katrina A Diaz, Humphrey Fang, Stefan Kohl, Susan J Allen, Rannar Airik, Weibin Zhou, Gokul Ramaswami, Sabine Janssen, Clementine Fu, Jamie L Innis, Stefanie Weber, Udo Vester, Erica E Davis, Nicholas Katsanis, Hanan M Fathy, Nikola Jeck, Gunther Klaus, Ahmet Nayir, Khawla A Rahim, Ibrahim Al Attrach, Ibrahim Al Hassoun, Savas Ozturk, Dorota Drozdz, Udo Helmchen, John F O'Toole, Massimo Attanasio, Richard A Lewis, Gudrun Nürnberg, Peter Nürnberg, Joseph Washburn, James MacDonald, Jeffrey W Innis, Shawn Levy, Friedhelm Hildebrandt

Publication

Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status.

Jacquelyn J Roth, Tamara M Fierst, Angela J Waanders, Li Yimei, Jaclyn A Biegel, Mariarita Santi

Publication

Whole genome sequencing identifies novel genetic mutations in patients with eczema herpeticum

Lianghua Bin, Claire Malley, Patricia Taylor, Meher Preethi Boorgula, Sameer Chavan, Michelle Daya, Malaika Mathias, Gautam Shankar, Nicholas Rafaels, Candelaria Vergara, Joseph Potee, Monica Campbell, Jon M Hanifin, Eric Simpson, Lynda C Schneider, Richard L Gallo, Tissa Hata, Amy S Paller, Anna De Benedetto, Lisa A Beck, Peck Y Ong, Emma Guttman-Yassky, Brittany Richers, David Baraghoshi, Ingo Ruczinski, Kathleen C Barnes, Donald Y M Leung, Rasika A Mathias

Publication

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.

Adda Villanueva, Jason R Willer, Julien Bryois, Emmanouil T Dermitzakis, Nicholas Katsanis, Erica E Davis

Publication

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT

E E Davis, J H Savage, J R Willer, Y-H Jiang, M Angrist, A Androutsopoulos, N Katsanis

Publication

Whole blood activated clotting time in infants during extracorporeal membrane oxygenation.

T P Green, B Isham-Schopf, R H Steinhorn, C Smith, R J Irmiter