FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Infectious Mononucleosis in Adults and Adolescents
UpToDate, May, Aronson,M.D. & Auwaerter,P.G., 2011
Clinicopath Conf, Intravascular Large-B-Cell Lympoma
NEJM 362:1129-1138, Case 9-2010, 2010
Clinicopath Conference, Cryptococcosis With Cryptococcal Meningitis in Liver Allograft Recipient
NEJM 358:1604-1613, Case 11-2008, 2008
Cryptococcus Neoformans Infection in Patients With Cirrhosis, Including Liver Transplant Candidates
Medicine 83:188-192, Singh,N.,et al, 2004
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990