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A Neonate with Micrognathia and Hypotonia
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Central Core Disease, Clinical Features in 13 Patients
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Clin. Path. Conference
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Congenital Myotonic Dystrophy
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The Neuropathy of Acute Intermittent Porphyria
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Sydenham Chorea
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Pyruvate Dehydrogenase Deficiency (PDCD)
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The Autosomal Recessive Cerebellar Ataxias
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Prader-Willi and Angelman Syndromes
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A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
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Physical Features of Prader-Willi Syndrome in Neonates
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Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990
The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
Neurol 38:1617-1627, Moser,H.W., 1988
Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Alternating Hemiplegia of Childhood
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Coffin-Siris Syndrome, Neuropathologic Findings
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The Cerebrohepatorenal (Zellweger) Syndrome
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The Causes of Cerebral Palsy
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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