Zobrazeno 1 - 8
of 8
pro vyhledávání: '"JENNIFER POSEY"'
Autor:
Kristin Maloney, Lisa Letourneau-Freiberg, Jennifer Posey, Klara Klein, Miriam Udler, Toni Pollin
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101117- (2024)
Externí odkaz:
https://doaj.org/article/95ee5f508d574ce7b95eb87cd2ee44ee
Autor:
Nara Sobreira, Sean Griffith, Corina Antonescu, Laura Vail, Jennifer Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Kimberly Doheny, James Lupski, David Valle, Ada Hamosh, Renan Martin
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100734- (2023)
Externí odkaz:
https://doaj.org/article/e1a01f486f2c4397ad554b19f25e1d15
Autor:
Margaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, Mohnish Suri, Alexander M.R. Taylor, Jennifer A. Sullivan, Ayat N. Asleh, Jaba Mitra, Mohamad A. Dar, Amy McNamara, Vandana Shashi, Sarah Dugan, Xiaofei Song, Jill A. Rosenfeld, Christelle Cabrol, Justyna Iwaszkiewicz, Vincent Zoete, Davut Pehlivan, Zeynep Coban Akdemir, Elizabeth R. Roeder, Rebecca Okashah Littlejohn, Harpreet K. Dibra, Philip J. Byrd, Grant S. Stewart, Bilgen B. Geckinli, Jennifer Posey, Rachel Westman, Chelsy Jungbluth, Jacqueline Eason, Rani Sachdev, Carey-Anne Evans, Gabrielle Lemire, Grace E. VanNoy, Anne O’Donnell-Luria, Frédéric Tran Mau-Them, Aurélien Juven, Juliette Piard, Cheng Yee Nixon, Ying Zhu, Taekjip Ha, Michael F. Buckley, Christel Thauvin, George K. Essien Umanah, Lionel Van Maldergem, James R. Lupski, Tony Roscioli, Valina L. Dawson, Ted M. Dawson, Stylianos E. Antonarakis
Publikováno v:
The American Journal of Human Genetics. 110:499-515
Autor:
Johannes Münch, Marie Engesser, Ria Schönauer, J Austin Hamm, Gulsen Akay, Beyhan Tüysüz, Toshihiko Shirakawa, Sumito Dateki, Laura Claus, Albertien M van Eerde, Timo Wagner, Carsten Bergmann, Jillian Buchan, Tara Wegner, Jennifer Posey, James R Lupski, Florence Petit, Andrew A Mccarthy, Gregory J Pazour, Cecilia W Lo, Bernt Popp, Jan Halbritter
Publikováno v:
Nephrology Dialysis Transplantation. 37
BACKGROUND AND AIMS Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney failure in children. Despite growing knowledge of the genetic causes of CAKUT, the majority of cases remain etiological
Publikováno v:
Handbook of Applied Behavior Analysis Interventions for Autism ISBN: 9783030964771
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03cf9989158789e3812a79a0689afb44
https://doi.org/10.1007/978-3-030-96478-8_14
https://doi.org/10.1007/978-3-030-96478-8_14
Autor:
Eliete Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Kim Doheny, James R. Lupski, David Valle, Michael Bamshad, Ada Hamosh, Assaf Sheffer, Jessica Chong, Yaron Einhorn, Miro Cupak, Nara Sobreira
Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that have made variant-level information together with phenotype or phenotypic features available to researchers, clinicians, health care providers and patients. Following in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c652365b685543fb95482299768ceff
https://doi.org/10.22541/au.163649734.42542748/v1
https://doi.org/10.22541/au.163649734.42542748/v1
Autor:
MARY E. FANG, JILL A. ROSENFELD, MARIA J. REDONDO, MUSTAFA TOSUR, PENGFEI LIU, ASHOK BALASUBRAMANYAM, JENNIFER POSEY, RADIANT STUDY GROUP
Publikováno v:
Diabetes. 70
The emerging heterogeneity of “T1D” and “T2D” has revealed a spectrum of atypical diabetes (AD), comprising genetically and phenotypically heterogeneous forms of DM that do not fit the usual pattern of T1D or T2D. We aimed to develop a strate
Autor:
Michael Wangler, Donna Brown, Hugo Bellen, Jennifer Posey, Mahshid Azamian, Matthew Wheeler, Ellen Macnamara, Shinya Yamamoto, Emilie Douine, Jennifer Louise Patrick Murphy, Jean-Philippe Gourdine, Katrina Waters, Philippe Campeau, Paul Fisher, Jordan Orange, Bobbie-Jo Webb-Robertson, Nicholas Stong
Publikováno v:
Genetics
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene funct