Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rebecca A. Willert"'
Autor:
Erik G Puffenberger, Robert N Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A Willert, Nathan P Achilly, Ryan P Cassidy, Christopher J Fiorentini, Kory F Heiken, Johnny J Lawrence, Molly H Mahoney, Christopher J Miller, Devika T Nair, Kristin A Politi, Kimberly N Worcester, Roni A Setton, Rosa Dipiazza, Eric A Sherman, James T Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L Rider, Stacey Gabriel, D Holmes Morton, Kevin A Strauss
Publikováno v:
PLoS ONE, Vol 7, Iss 1, p e28936 (2012)
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) m
Externí odkaz:
https://doaj.org/article/7c28aa674b674c77b7d6bd3569aa9184
Autor:
Steven Gottlieb, Kevin A. Strauss, Rachel M. Johnson, Kathleen J. Millen, Ying Y. Jean, Deborah Bartholdi, Karlla W. Brigatti, Erik G. Puffenberger, A. Murat Maga, Agnieszka M. Czaja, Sarah Collins, Carol M. Troy, Amy Goldstein, Anke Nissen, Jessi A. Stover, Carissa Olds, Alison B. Shupp, Achira Roy, Ghayda M. Mirzaa, Robert N. Jinks, Rebecca A. Willert, Kimberly A. Aldinger, Briana D. Krewson, Victoria Boyd-Kyle, William B. Dobyns, Maria I. Avrutsky, Nataliya Di Donato, Anita Rauch
Publikováno v:
Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; ... (2016). Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American journal of human genetics, 99(5), pp. 1117-1129. Cell Press 10.1016/j.ajhg.2016.09.010
Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72907a7a4491db966d4dd84abd92358f
https://www.zora.uzh.ch/id/eprint/133429/
https://www.zora.uzh.ch/id/eprint/133429/
Autor:
Christopher S. Francklyn, Kimberly N. Worcester, Kory F. Heiken, Eric A. Sherman, D. Holmes Morton, James T. Eastman, Molly H. Mahoney, Nathan P. Achilly, Carrie Sougnez, Robert N. Jinks, Kristin A. Politi, Kevin A. Strauss, Rebecca A. Willert, Johnny J. Lawrence, Rosa DiPiazza, Susan M. Robey-Bond, Nicholas L. Rider, Christopher J. Miller, Christopher J. Fiorentini, Stacey Gabriel, Kristian Cibulskis, Erik G. Puffenberger, Roni Setton, Ryan P. Cassidy, Devika T. Nair
Publikováno v:
PLoS ONE, Vol 7, Iss 1, p e28936 (2012)
PLoS ONE
PLoS ONE
The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) m