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Showing articles 0 to 13 of 13

Filter Applied: genetic diagnosis,prenatal (Click to remove)

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Cerebrotendinous Xanthomatosis:Molecular Diagnosis Enables Presymptomatic Detection of a Treatable Disease
Neurol 44:288-290, Meiner,V.,et al, 1994

Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988

The Cerebrohepatorenal (Zellweger) Syndrome
NEJM 310:1141-1146, Moser,A.E.,et al, 1984

CT Scans in Menkes Disease
Neurol 29:304-312, Seay,A.R.,et al, 1979



Showing articles 0 to 13 of 13