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Extraintestinal Manifestations of Coeliac Disease
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Mitochondrial DNA and Disease
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Germinoma of third Ventricle (Case Record of MGH)
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Age at Onset of Puberty Following High-Dose Central Nervous System Radiation Therapy
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Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
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Kearns-Sayre Syndrome with Hypoparathyroidism
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Dopamine-Responsive Dystonia
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Familial Hypopituitarism with Large Sella Turcica
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Chronic Hydrocephalus Associated with Short Stature & Growth Hormone Deficiency
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