A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
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Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Prolactinoma
NEJM 349:2035-2041, Schlechte,J.A., 2003
Cortically Evoked Motor Responses in Patients with Xp22. 3-Linked Kallmann's Syndrome and in Female Gene Carriers
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Brief Report:Intragenic Deletion of the Kalig-1 Gene in Kallmann's Syndrome
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Accelerated Aging of the Brain in Werner's Syndrome
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Cockayne Syndrome: Review of 140 Cases
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013
Prolactinomas
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Sarcoidosis: Clinical, Hormonal, and Magnetic Resonance Imaging (MRI) Manifestations of Hypothalamic-Pituitary Disease in 9 Patients and Review of the Literature
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Late-Onset Cerebellar Ataxia with Hypogonadism and Muscle Coenzyme Q10 Deficiency
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Prader-Willi and Angelman Syndromes
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Diagnosis and Management of Pituitary Tumours
BMJ 308:1087-1091, Levy,A.&Lightman,S.L., 1994
Hypothalamic-Pituitary Dysfunction after Radiation for Brain Tumors
NEJM 328:87-94, Constine,L.S.,et al, 1993
Physical Features of Prader-Willi Syndrome in Neonates
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Neurologic Findings in Men with Isolated Hypogonadotropic Hypogonadism
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Syndrome of Cerebellar Ataxia and Hypogonadotrophic Hypogonadism:Evidence for Pituitary Gonadotrophin Deficiency
JNNP 52:407-409, Fox,A.C.K.,et al, 1989
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Isolated CNS Sarcoidosis
JAMA 245:62-63, Cariski,A.T., 1981
Prolactin-Secreting Tumors & Hypogonadism in 22 Men
NEJM 299:847-852, Carter,J.N.,et al, 1978
Adrenomyeloneuropathy:A Probable Variant of Adrenoleukodystrophy
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The Oculopharyngeal Syndrome
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