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Showing articles 0 to 12 of 12

Filter Applied: genetic testing (Click to remove)

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012

Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006

Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

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

Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007

Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006

von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003

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

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



Showing articles 0 to 12 of 12