Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Jennifer, Goldstein"'
Autor:
Emily Groopman, Amanda Thomas-Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann Moser, Sharon Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek-Andrews, Nancy Braverman, Rong Mao
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100005- (2023)
Externí odkaz:
https://doaj.org/article/721b83fb247a45fcbe213934bf7cb395
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Autor:
Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)
Externí odkaz:
https://doaj.org/article/33db357776d94cb5babd1aacc95aaecd
Autor:
Eric D. Moyer, Erik B. Lehman, Matthew D. Bolton, Jennifer Goldstein, Ariana R. Pichardo-Lowden
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Stress hyperglycemia (SH) is a manifestation of altered glucose metabolism in acutely ill patients which worsens outcomes and may represent a risk factor for diabetes. Continuity of care can assess this risk, which depends on quality of hosp
Externí odkaz:
https://doaj.org/article/d8dba1f44a114445992269e9979b0113
Publikováno v:
Gynecologic Oncology Reports, Vol 17, Iss C, Pp 49-52 (2016)
There is a broad range of possible diagnoses for an elevated beta human chorionic gonadotropin (β-hCG) in the absence of intrauterine or ectopic pregnancy. When women of child bearing potential undergo evaluation for clinical trial, it is often uncl
Externí odkaz:
https://doaj.org/article/a5bbb239bfa346f0b8e44795d0928f72
Publikováno v:
VUE (Voices in Urban Education). 51
It has been my great good fortune in this life to work, in different ways and at different times, with two extraordinary educators. I have known Pedro Noguera, now Dean of the Rossier School of Education at USC, for upwards of 30 years, since he was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7227b3ea5646d1b3b8e78a37380fde9a
https://doi.org/10.35240/vue.29
https://doi.org/10.35240/vue.29
Autor:
Shruthi Mohan, Megan Mayers, Meredith Weaver, Heather Baudet, Irene De Biase, Jennifer Goldstein, Rong Mao, Jennifer McGlaughon, Ann Moser, Aurora Pujol, Sharon Suchy, Tatiana Yuzyuk, Nancy E. Braverman
Publikováno v:
Molecular Genetics and Metabolism. 139:107604
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9720f3fb545f51c2c39973961a7e42
https://doi.org/10.1016/j.ymgme.2023.107604
https://doi.org/10.1016/j.ymgme.2023.107604
Autor:
Mari Mori, Jennifer Goldstein, Sarah P. Young, Edward H. Bossen, John Shoffner, Dwight D. Koeberl
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 39-41 (2015)
Complex III deficiency due to a MT-CYB mutation has been reported in patients with myopathy. Here, we describe a 15-year-old boy who presented with metabolic acidosis, ketotic hypoglycemia and carnitine deficiency. Electron transport chain analysis a
Externí odkaz:
https://doaj.org/article/9eb665720dd54638bbbe8baae626be02
Autor:
Courtney Thaxton, Jennifer Goldstein, Marina DiStefano, Kathleen Wallace, P. Dane Witmer, Melissa A. Haendel, Ada Hamosh, Heidi L. Rehm, Jonathan S. Berg
Publikováno v:
Cell genomics. 2(5)
The dilemma of how to categorize and classify diseases has been debated for centuries. The field of medical genetics has historically approached nosology based on clinical phenotypes observed in patients and families. Advances in genomic sequencing a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07943ea7ca84874e87ff631cd25d5000
https://pubmed.ncbi.nlm.nih.gov/35754516
https://pubmed.ncbi.nlm.nih.gov/35754516
Akademický článek
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Autor:
Jennifer Goldstein
Publikováno v:
Proceedings of the 2022 AERA Annual Meeting.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98be1798884facd086483ed833687812
https://doi.org/10.3102/1884231
https://doi.org/10.3102/1884231