Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Rachel D. Starks"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
Abstract Background Reports of interstitial duplication of chromosome 20q11 are rare with only nine published patients to date. Methods We performed karyotype and chromosomal microarray analysis on a peripheral blood sample for our patient and review
Externí odkaz:
https://doaj.org/article/311949e2bf794198b56f4931072f45d9
Publikováno v:
Pharmacogenomics. 23:987-993
Pharmacogenomics (PGx) testing is commonly utilized to predict a patient's response to medications based on the presence of genetic variants. However, certain conditions have been associated with potentially inaccurate PGx results. The majority of me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::699b1155c93f0975478a1c4e3ad605b7
https://doi.org/10.2217/pgs-2022-0148
https://doi.org/10.2217/pgs-2022-0148
Publikováno v:
World Neurosurgery. 134:264-271
Background The majority of the abnormalities and diseases that affect the craniovertebral junction (CVJ) have already been reported, and therefore it is exceedingly rare to identify new pathology that affects the CVJ. Immunoglobulin G4–related dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee9c7da4f97f686da44905cba73fdb3a
https://doi.org/10.1016/j.wneu.2019.10.195
https://doi.org/10.1016/j.wneu.2019.10.195
Autor:
Rachel D Starks, Andreas M Beyer, Deng Fu Guo, Lauren Boland, Qihong Zhang, Val C Sheffield, Kamal Rahmouni
Publikováno v:
PLoS Genetics, Vol 11, Iss 6, p e1005311 (2015)
Insulin and its receptor are critical for the regulation of metabolic functions, but the mechanisms underlying insulin receptor (IR) trafficking to the plasma membrane are not well understood. Here, we show that Bardet Biedl Syndrome (BBS) proteins a
Externí odkaz:
https://doaj.org/article/ba17228dbf464a389d44b84f395237bc
Autor:
Anna E. Merrill, Bonnie S Brown, Pamela J Goldsmith, Matthew D. Krasowski, Rachel D Starks, Jeff Kulhavy, Scott R Davis, Dena R. Voss
Publikováno v:
Journal of Pathology Informatics
Journal of Pathology Informatics, Vol 12, Iss 1, Pp 19-19 (2021)
Journal of Pathology Informatics, Vol 12, Iss 1, Pp 19-19 (2021)
Background: Hematology analysis comprises some of the highest volume tests run in clinical laboratories. Autoverification of hematology results using computer-based rules reduces turnaround time for many specimens, while strategically targeting speci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cd70d13bd61de8665abbcefcae3681f
https://doi.org/10.4103/jpi.jpi_89_20
https://doi.org/10.4103/jpi.jpi_89_20
Publikováno v:
Autopsy and Case Reports. 8
Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, fac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2012322dda0a1547f44ae6cc6b4643d8
https://doi.org/10.4322/acr.2018.031
https://doi.org/10.4322/acr.2018.031
Autor:
Lauren K. Boland, Val C. Sheffield, Rachel D. Starks, Deng-Fu Guo, Andreas M. Beyer, Qihong Zhang, Kamal Rahmouni
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 11, Iss 6, p e1005311 (2015)
PLoS Genetics, Vol 11, Iss 6, p e1005311 (2015)
Insulin and its receptor are critical for the regulation of metabolic functions, but the mechanisms underlying insulin receptor (IR) trafficking to the plasma membrane are not well understood. Here, we show that Bardet Biedl Syndrome (BBS) proteins a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad66e7800dabfc9d240312aceaa883b
http://europepmc.org/articles/PMC4478011
http://europepmc.org/articles/PMC4478011
Publikováno v:
The FASEB Journal. 28
Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive disorder associated with several features including obesity, polydactyly, retinal degeneration, hypogenitalism, leaning difficulty a...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89ed2f8d0c9bc7cd30c7151143a81c17
https://doi.org/10.1096/fasebj.28.1_supplement.216.5
https://doi.org/10.1096/fasebj.28.1_supplement.216.5
Autor:
Rachel D Starks, Anna E Merrill, Scott R Davis, Dena R Voss, Pamela J Goldsmith, Bonnie S Brown, Jeff Kulhavy, Matthew D Krasowski
Publikováno v:
Journal of Pathology Informatics, Vol 12, Iss 1, Pp 19-19 (2021)
Background: Hematology analysis comprises some of the highest volume tests run in clinical laboratories. Autoverification of hematology results using computer-based rules reduces turnaround time for many specimens, while strategically targeting speci
Externí odkaz:
https://doaj.org/article/5a85e4e1d4f34c2285f5ffe30d508a9e