Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Laurie, Demmer"'
Autor:
Shanna M. Swartwood, Ana Morales, Kathryn E. Hatchell, Chad Moretz, Dianalee McKnight, Laurie Demmer, Sarah Chagnon, Swaroop Aradhya, Edward D. Esplin, Joshua L. Bonkowsky
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 439-444 (2024)
Abstract The identification of numerous genetically based epilepsies has resulted in the widespread use of genetic testing to inform epilepsy etiology. Our study aims to investigate whether a difference exists in the diagnostic evaluation and healthc
Externí odkaz:
https://doaj.org/article/0eccc6c943f44a18b21ac316ae253fba
Autor:
Laurie Demmer, Dana Mittag
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101255- (2024)
Externí odkaz:
https://doaj.org/article/036793e4673b4f288c3fec47a26b8a85
Autor:
Sarah Dotters-Katz, Ginger Hocutt, C Michael Osborne, Emily E. Hardisty, Laurie Demmer, Neeta Vora
Publikováno v:
American Journal of Perinatology Reports, Vol 06, Iss 04, Pp e372-e377 (2016)
Abstract Objective Many residency programs offer limited exposure and minimal didactic time genetics, despite its frequent use in obstetrics and gynecology. The objective of this study was to develop, pilot, and assess a three-module women's health
Externí odkaz:
https://doaj.org/article/1f4b282931b445f59f11a5cca862fba5
Autor:
Laurie Demmer, Dana Mittag
Publikováno v:
Genetics in Medicine. 24:S68-S69
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1053e5014714fad2a92c91fe2c401490
https://doi.org/10.1016/j.gim.2022.01.144
https://doi.org/10.1016/j.gim.2022.01.144
Publikováno v:
Cancer Genetics. :5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d5b215418ce133b629edc7f239edb2e
https://doi.org/10.1016/j.cancergen.2022.05.017
https://doi.org/10.1016/j.cancergen.2022.05.017
Autor:
Natalie B, Tan, Alistair T, Pagnamenta, Matteo P, Ferla, Jonathan, Gadian, Brian Hy, Chung, Marcus Cy, Chan, Jasmine Lf, Fung, Edwin, Cook, Stephen, Guter, Felix, Boschann, Andre, Heinen, Jens, Schallner, Cyril, Mignot, Boris, Keren, Sandra, Whalen, Catherine, Sarret, Dana, Mittag, Laurie, Demmer, Rachel, Stapleton, Ken, Saida, Naomichi, Matsumoto, Noriko, Miyake, Ruth, Sheffer, Hagar, Mor-Shaked, Christopher P, Barnett, Alicia B, Byrne, Hamish S, Scott, Alison, Kraus, Gerarda, Cappuccio, Nicola, Brunetti-Pierri, Raffaele, Iorio, Fabiola, Di Dato, Lynn S, Pais, Alison, Yeung, Tiong Y, Tan, Jenny C, Taylor, John, Christodoulou, Susan M, White
Publikováno v:
Journal of medical genetics. 59(5)
Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. AWe discovered aWe identified 12 unrelated individuals wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b55174e0b53490f5ca4673011d77f422
https://pubmed.ncbi.nlm.nih.gov/34183358
https://pubmed.ncbi.nlm.nih.gov/34183358
Publikováno v:
Pediatric nephrology (Berlin, Germany). 34(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366816a18361edf004b4c5a61a55d271
https://pubmed.ncbi.nlm.nih.gov/31069511
https://pubmed.ncbi.nlm.nih.gov/31069511
Publikováno v:
Pediatrics. 146:183-183
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc6f78a79e97baba78c816c6599a3578
https://doi.org/10.1542/peds.146.1ma3.183a
https://doi.org/10.1542/peds.146.1ma3.183a
Autor:
Keith Nykamp, Laurie Demmer, Anne Deucher, Amy Blevins, Marina Rabideau, Amy Harper, Marjorie Jody Westbrook, Tali Ekstein, Christopher A. Tan
Publikováno v:
American journal of medical genetics. Part A. 170(6)
Pathogenic variants in the mitofusin 2 gene (MFN2) are the most common cause of autosomal dominant Charcot-Marie-Tooth (CMT2) disease, which is typically characterized by axonal sensorimotor neuropathy. We report on a 7-month-old white female with hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffaf59f47438b3ee67ddfd90f2411d6c
https://pubmed.ncbi.nlm.nih.gov/26955893
https://pubmed.ncbi.nlm.nih.gov/26955893