Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Josue A, Flores Daboub"'
Autor:
Josue A, Flores Daboub, Johanes Fred, Grimmer, Alice, Frigerio, Whitney, Wooderchak-Donahue, Ryan, Arnold, Jeff, Szymanski, Nicola, Longo, Pinar, Bayrak-Toydemir
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Parkes Weber syndrome is associated with autosomal dominant inheritance, caused by germline heterozygous inactivating changes in the RASA1 gene, characterized by multiple micro arteriovenous fistulas and segmental overgrowth of soft tissue and skelet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ae83fbcf40795df1e7287226f59b382
https://pubmed.ncbi.nlm.nih.gov/32843429
https://pubmed.ncbi.nlm.nih.gov/32843429
Autor:
Theodore J. Pysher, Sabrina Malone Jenkins, Justin Jenkins, Pinar Bayrak-Toydemir, Betsy Ostrander, Hunter R. Underhill, Shale Dames, Erin K. Zinkhan, Josue A. Flores Daboub, Luca Brunelli, Rong Mao, Tatiana Tvrdik, Lorenzo D. Botto, Theodore Wilson, Christian C. Yost, Joshua L. Bonkowsky, Steven B. Bleyl, Brandon A. Zielinski, Christine E. Miller, James M. Gudgeon
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purpo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386cc3b5eb5923b048c45dd7ad89bc8f
https://doaj.org/article/ff0818469b6d4546ba5c6c6d5a8b0081
https://doaj.org/article/ff0818469b6d4546ba5c6c6d5a8b0081
Autor:
Pinar Bayrak-Toydemir, Jeff Szymanski, Josue A. Flores Daboub, Ryan Arnold, Whitney Wooderchak-Donahue, Johanes Fred Grimmer, Nicola Longo, Alice Frigerio
Publikováno v:
Molecular Case Studies. 6:a005256
Parkes Weber syndrome is associated with autosomal dominant inheritance, caused by germline heterozygous inactivating changes in the RASA1 gene, characterized by multiple micro arteriovenous fistulas and segmental overgrowth of soft tissue and skelet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a536f4da4df05416052261257c594f91
https://doi.org/10.1101/mcs.a005256
https://doi.org/10.1101/mcs.a005256