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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Helper & Suppressor T-Lymphocyte Leukemia In Ataxia Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Neurologic Manifestations of von Hippel-Lindau Disease
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Neuroblastoma -- from Genetic Profiles to Clinical Challenge
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Angelman Syndrome: Clinical Profile
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Cockayne Syndrome: Review of 140 Cases
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Brain Tumors
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Fucosidosis Revisited:A Review of 77 Patients
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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Hypomelanosis of Ito:Association with a Chromosomal Abnormality
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Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
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Ataxia Telangiectasia
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