Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Grace Niewijk"'
Autor:
Min Yu, Tiziana Bachetti, Virginia Speare, Casey M. Rand, Isabella Ceccherini, Amy Zhou, Kai Lee Yap, Patrick Reineke, Lawrence J. Jennings, Debra E. Weese-Mayer, Sara M. Hockney, Lili Zhou, Melanie Pennock, Elizabeth Berry-Kravis, Grace Niewijk
Publikováno v:
Genetics in Medicine. 23:1656-1663
Purpose CCHS is an extremely rare congenital disorder requiring artificial ventilation as life support. Typically caused by heterozygous polyalanine repeat expansion mutations (PARMs) in the PHOX2B gene, identification of a relationship between PARM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddba4abca4a84e89251cc011b0d5343b
https://doi.org/10.1038/s41436-021-01178-x
https://doi.org/10.1038/s41436-021-01178-x
Autor:
Grace Niewijk
Publikováno v:
Genetic Engineering & Biotechnology News. 40:42-44, 46
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1e255be1df5a408e554c78e0634bb1c
https://doi.org/10.1089/gen.40.12.13
https://doi.org/10.1089/gen.40.12.13
Autor:
Grace Niewijk Contributi
Publikováno v:
Clinical OMICs. 7:16-20
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::950bb44806f9d52f8d5ad111a40e96ef
https://doi.org/10.1089/clinomi.07.06.18
https://doi.org/10.1089/clinomi.07.06.18
Autor:
Kristen Kelly, Saajidha Rizvydeen, Sara M. Hockney, Justin J. Warner, Bradley J. Scher, Stephen Joza, Thomas Bielawiec, Tracey M. Stewart, Debra E. Weese-Mayer, Anna S. Kenny, Aaron Charnay, Samantha C. Gordon, Drew Simon, Lynne Trojanowski, Sally F. Vitez, Amy Zhou, Grace Niewijk, Michelle Price, Molly Winston, Emma C. Dunne, Lena J. Volpe, David W. Reed, Nicholas J. Volpe, Cia Panicker, Casey M. Rand, Cindy D. Brogadir, Cara Coleman, Gigi Buniao, Allison Bradley, Brooke A. Pigneri
Publikováno v:
Clinical Autonomic Research. 30:43-51
To determine if variables of the pupillary light response mature with age and sex in a healthy pediatric cohort and the utility of pupillometry in assessment among pediatric participants. After 1 min in a dark room to establish baseline, pupillometry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d576646966149ef2c97b7861086cdd1
https://doi.org/10.1007/s10286-019-00639-3
https://doi.org/10.1007/s10286-019-00639-3
Autor:
Amy, Zhou, Casey M, Rand, Sara M, Hockney, Grace, Niewijk, Patrick, Reineke, Virginia, Speare, Elizabeth M, Berry-Kravis, Lili, Zhou, Lawrence J, Jennings, Min, Yu, Isabella, Ceccherini, Tiziana, Bachetti, Melanie, Pennock, Kai Lee, Yap, Debra E, Weese-Mayer
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(9)
CCHS is an extremely rare congenital disorder requiring artificial ventilation as life support. Typically caused by heterozygous polyalanine repeat expansion mutations (PARMs) in the PHOX2B gene, identification of a relationship between PARM length a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ea1a1d26887a2fc3cd375572fbdcfea9
https://pubmed.ncbi.nlm.nih.gov/33958749
https://pubmed.ncbi.nlm.nih.gov/33958749