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
Prenatal Diagnosis Requests for Huntington's Disease when the Father is at Risk, and Does Not Want to Know His Genetic Status: Clinical, Legal, and Ethical Viewpoints
BMJ 326:331-333, Tassicker,R.,et al, 2003
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000
Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
Neurol 51:865-867, Chen,W.,et al, 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Myotonic Dystrophy
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Prenatal Genetic Diagnosis
NEJM 283:1370, Milunsky,A.,et al, 1970
Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
NEJM 327:57, Cossu,P.,et al, 1992
Predictive Testing for Wilson's Disease Using Tightly Linked and Flanking DNA Markers
Neurol 41:992-999, Farrer,L.A.,et al, 1991
CT Scans in Menkes Disease
Neurol 29:304-312, Seay,A.R.,et al, 1979