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A Neonate with Micrognathia and Hypotonia
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Familial Recurrent Bell's Palsy with Ocular Motor Palsies
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Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
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Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
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Two Cases of Van Buchem's Disease
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Familial Recurrent Peripheral Facial Palsy
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Ocular Myopathy
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A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
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Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
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Clinical Reasoning: A Teenager with Left Arm Weakness
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The Limbic-Girdle Muscular Dystrophies
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Mitochondrial DNA Polymerase-y and Human Disease
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Cockayne Syndrome: Review of 140 Cases
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Fucosidosis Revisited:A Review of 77 Patients
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Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
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Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Central Core Disease, Clinical Features in 13 Patients
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Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
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Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
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Progressive Pontobulbar Palsy With Deafness
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Familial Spastic Paraplg, Peroneal Neuropathy, & Crural Hypopig, A New Neurocut Synd
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Congenital Myotonic Dystrophy
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Duane Syndrome & Congential Upper-Limb Anomalies:A Familial Occurrence
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Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Bilateral Hearing Loss and Constricted Visual Fields
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Ears of the Lynx Magnetic Resonance Imaging Sign
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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A 10-year-old boy with Bilateral Vision Loss
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A Young Man with Progressive Vision and Hearing Loss
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