Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Vanessa, Horner"'
Autor:
Stephen Meyn, Bryn Webb, Derek Pavelek, Heather Motiff, Jadin Heilmann, Hieu Nguyen, Xiangqiang Shao, Vanessa Horner, April Hall
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101512- (2024)
Externí odkaz:
https://doaj.org/article/0f78dd24927442729d1a0d62fb439986
Autor:
Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has n
Externí odkaz:
https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100568- (2023)
Externí odkaz:
https://doaj.org/article/77a358dcb401413bbc55dc9832c21614
Autor:
Ali, Jandal, Weixiong, Zhong, Deepak, Gopal, Vanessa, Horner, Leah, Frater-Rubsam, Arjang, Djamali, Gauri, Bhutani
Publikováno v:
The American Journal of the Medical Sciences. 365:286-293
We report a 36-year-old female with mixed nephritic-nephrotic syndrome and recurrent pancreatitis. Kidney biopsy showed a crescentic membranoproliferative glomerulonephritis with dominant C3 staining on immunofluorescence (IF) but only scant deposits
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d10d0f99c5b17ce54e36df4d32e574f0
https://doi.org/10.1016/j.amjms.2022.10.004
https://doi.org/10.1016/j.amjms.2022.10.004
Autor:
Patrice K. Held, Kristin Campbell, Amy E. Wiberley-Bradford, Michael Lasarev, Vanessa Horner, Amy Peterson
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 14 (2022)
Heterozygous familial hypercholesterolemia (HeFH) is a common, treatable genetic disorder characterized by premature atherosclerosis and cardiovascular disease, yet the majority of affected individuals remain undiagnosed. Newborn screening could play
Externí odkaz:
https://doaj.org/article/c26ccbb49607450a8a7343bf7cdf3bf9
Autor:
Patrice K. Held, Kristin Campbell, Amy E. Wiberley-Bradford, Michael Lasarev, Vanessa Horner, Amy Peterson
Publikováno v:
International Journal of Neonatal Screening; Volume 8; Issue 1; Pages: 14
Heterozygous familial hypercholesterolemia (HeFH) is a common, treatable genetic disorder characterized by premature atherosclerosis and cardiovascular disease, yet the majority of affected individuals remain undiagnosed. Newborn screening could play
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d26333c109b3a7dfda88659e321d7c3
https://pubmed.ncbi.nlm.nih.gov/35225936
https://pubmed.ncbi.nlm.nih.gov/35225936
Publikováno v:
Genetics in Medicine. 24:S39
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a175dd87e3814e0a5c3b7b27ee279141
https://doi.org/10.1016/j.gim.2022.01.098
https://doi.org/10.1016/j.gim.2022.01.098