Zobrazeno 1 - 2
of 2
pro vyhledávání: '"P L, Magoulas"'
Autor:
Nidhy P. Varghese, Akhilesh A. Padhye, Pilar L. Magoulas, George B. Mallory, Fadel E. Ruiz, Sandeep Sahay
Publikováno v:
Pulmonary Circulation, Vol 13, Iss 3, Pp n/a-n/a (2023)
Abstract Heritable pulmonary artery hypertension (HPAH) is an increasingly recognized type of pulmonary arterial hypertension, in both pediatric and adult population. Intrinsic to hereditary disease, screening for genetic mutations within families is
Externí odkaz:
https://doaj.org/article/606616355a4c4ac1a9e6bb7463e9f388
Autor:
M J M, Nowaczyk, B A, Thompson, S, Zeesman, U, Moog, P A, Sanchez-Lara, P L, Magoulas, R E, Falk, J E, Hoover-Fong, D A S, Batista, S M, Amudhavalli, S M, White, G E, Graham, K A, Rauen
Publikováno v:
Clinical genetics. 85(2)
RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::71e4a41c0e4ca0e3a0e089d0b858d428
https://pubmed.ncbi.nlm.nih.gov/23379592
https://pubmed.ncbi.nlm.nih.gov/23379592