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Showing articles 0 to 34 of 34

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

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

The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998

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

Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995

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

Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992

Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
NEJM 325:1673-1681, Rousseau,F.,et al, 1991

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

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

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002

Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
Neurol 51:865-867, Chen,W.,et al, 1998

Prenatal Diagnosis of Duchenne Muscular Dystrophy Using a Single Fetal Nucleated Erythrocyte in Maternal Blood
Neurol 46:1350-1353, Sekizawa,A.,et al, 1996

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

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

Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts
NEJM 329:915-920, Sancho,S.,et al, 1993

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993

Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993

Familial Neurofibromatosis Type 1:Clinical Experience with DNA Testing
J Pediatr 120:394-398, Hofman,K.J.&Boehm,C.D., 1992

GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992

Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992

Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
Multicenter Study Group, JAMA 267:2609-26151992., , 1992

Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992

Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence
NEJM 325:1720-1738, Sutherland,G.R.,et al, 1991

Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990

Presymptomatic and Prenatal Diagnosis in Myotonic Dystrophy by Genetic Linkage Studies
Neurol 40:671-676, Speer,M.C.,et al, 1990

Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990

Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989

Preventive Screening for Fragile X Syndrome
Editorial, Lancet 2:1191-11921986., , 1986

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Prenatal Diagnosis of Cockayne's Syndrome
Lancet 1:486-488, Lehmann,A.R.,et al, 1985



Showing articles 0 to 34 of 34