Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Tommy Hyatt"'
Autor:
Mirna Toledo-Bahena, Alan D. Irvine, Nnenna G. Agim, Richard C. Wang, Donald A. Glass, Irene Dougherty, Mohammed Kanchwala, Chao Xing, Monique G. Kumar, An Tran, Marwan Shinawi, David R. Berk, Andrea Tovar-Garza, Jonathan J. Rios, Christy Purnadi, Tommy Hyatt
Publikováno v:
Human mutationREFERENCES. 42(8)
CDAGS Syndrome is a rare congenital disorder characterized by Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations. We performed whole exome and Sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0452ddbff2f0a772e2edb9996f4ddfd
https://pubmed.ncbi.nlm.nih.gov/34085356
https://pubmed.ncbi.nlm.nih.gov/34085356
Publikováno v:
Journal of clinical lipidology. 12(4)
This is a case report of a 38-year-old Syrian refugee male with early-onset extensive atherosclerosis. The physical and laboratory examination were remarkable with severe xanthomas in the upper and lower extremities and with low-density lipoprotein c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f966803b692716e75f7a36ae6b28287
https://pubmed.ncbi.nlm.nih.gov/29784571
https://pubmed.ncbi.nlm.nih.gov/29784571
Autor:
Robert J. Desnick, Suparna Martis, Yao Yang, Irina Nazarenko, Stuart A. Scott, Yumi Kasai, Tommy Hyatt, Benny Liu, Julia Kozlitina, Charina M. Ramirez, Inga Peter
Publikováno v:
Hepatology. 58:958-965
Cholesteryl ester storage disease (CESD) and Wolman disease are autosomal recessive later-onset and severe infantile disorders, respectively, which result from the deficient activity of lysosomal acid lipase (LAL). LAL is encoded by LIPA (10q23.31) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e09788a42862b4fadb5aaaa1df156d
https://doi.org/10.1002/hep.26327
https://doi.org/10.1002/hep.26327
Autor:
Tommy Hyatt, Jaroslav A. Hubacek
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 42
Mutations in a putative low-density lipoprotein (LDL) receptor adaptor protein called ARH have been recently described in patients with autosomal recessive hypercholesterolemia (ARH). ARH plays a tissue-specific role in determination of LDL receptor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc5336cc96e00ae298450c38bfbef76d
https://doi.org/10.1515/cclm.2004.200
https://doi.org/10.1515/cclm.2004.200
Autor:
Yuanlan Liao, Nila Patil, Tommy Hyatt, Helen H. Hobbs, Gabriele Mues, Jonathan Cohen, Christine Kim Garcia
Publikováno v:
Genome research. 11(6)
Elevated plasma lipoprotein levels play a crucial role in the development of coronary artery disease. Genetic factors strongly influence the levels of plasma lipoproteins, but the genes and sequence variations contributing to the most common forms of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6022415ea18b374b93a9360deb17ad5
https://pubmed.ncbi.nlm.nih.gov/11381031
https://pubmed.ncbi.nlm.nih.gov/11381031
Publikováno v:
Scopus-Elsevier
Experimental and Applied Mechanics, Volume 6 ISBN: 9781441994974
Experimental and Applied Mechanics, Volume 6 ISBN: 9781441994974
Biological tissues routinely experience large strains and undergo large deformations during normal physiologic activity. In order to quantify this strain, researchers often use optical marker tracking methods which are tedious and difficult. This pap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e499e7bc690a796f4a6a9ac718182e8
http://www.scopus.com/inward/record.url?eid=2-s2.0-78049416297&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-78049416297&partnerID=MN8TOARS
