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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
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Spinal Muscular Atrophy
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Congenital Cytomegalovirus Infection
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Prader-Willi and Angelman Syndromes
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
Ann Neurol 31:64-68, Perlman,J.M.&Argyle,C., 1992
Congenital Inflammatory Myopathy
Neurol 40:1111-1114, Shevell,M.,et al, 1990
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Congenital Myotonic Dystrophy
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Hyperphenylalaninemia Due To A Deficiency of Biopterin
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