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Showing articles 0 to 15 of 15

Filter Applied: familial (Click to remove)

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

Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 982, Ropper, A.H.,et al, 2014

Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011

Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007

Patients with Multiple Sclerosis and Risk of Type 1 Diabetes Mellitus in Sardinia,Italy: A Cohort Study
Lancet 359:1461-1465,1450, Marrosu,M.G.,et al, 2002

Clinical and Subclinical Neurological Involvement in Children of Conjugal Multiple Sclerosis Patients
Multiple Sclerosis 1:170-172, Constantinescu,C.S.,et al, 1996

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995

Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Conjugal Multiple Sclerosis:A Clinical and Laboratory Study
Neurol 41:1320-1321, Finelli,P.F., 1991

Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
Neurol 41:1651-1655, Durner,M.,et al, 1991

Familial Patterns of Narcolepsy
lancet 2:1376-1379, Guilleminault,C.,et al, 1989

Genetic Factors in Myasthenia Gravis:A Family Study
Neurol 38:38-42, Kerzin-Storrar,L.,et al, 1988



Showing articles 0 to 15 of 15