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A Clinical Study of Noonan Syndrome
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Neurological Findings in Patients with the Fragile-X Syndrome
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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Acromegaly
NEJM 393:1926-1939, Giustina,A. & Colao,A.,, 2025
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
MR Brain Imaging of Fucosidosis Type I
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Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Ischemic Stroke and Intracranial Multifocal Cerebral Arteriopathy in Williams Syndrome
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Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Fragile X Syndrome:Associated Neurological Abnormalities & Developmental Disabilities
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Fragile X Chromosome & X-Linked Mental Retardation
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