Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Abnormalities and VHL[original query] |
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Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Blood 2004 May 103 (10): 3924-32. Gordeuk Victor R, Sergueeva Adelina I, Miasnikova Galina Y, Okhotin Daniel, Voloshin Yaroslav, Choyke Peter L, Butman John A, Jedlickova Katerina, Prchal Josef T, Polyakova Lydia |
Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011 Jun 25 (6): 2001-11. Formenti Federico, Beer Philip A, Croft Quentin P P, Dorrington Keith L, Gale Daniel P, Lappin Terence R J, Lucas Guy S, Maher Eamonn R, Maxwell Patrick H, McMullin Mary F, O'Connor David F, Percy Melanie J, Pugh Christopher W, Ratcliffe Peter J, Smith Thomas G, Talbot Nick P, Robbins Peter |
Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes. Clinical endocrinology 2013 Dec 79 (6): 817-23. P?czkowska Mariola, Kowalska Aldona, Sygut Jacek, Waligórski Dariusz, Malinoc Angelica, Janaszek-Sitkowska Hanna, Prejbisz Aleksander, Januszewicz Andrzej, Neumann Hartmut P |
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