Spinal Muscular Atrophy
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Prader-Willi and Angelman Syndromes
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Clinicopath Conf
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Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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Genome Sequencing in the NICU and PICU is Here to Stay
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Causal Heterogeneity in Isolated Lissencephaly
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Fucosidosis Revisited:A Review of 77 Patients
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Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Intracranial Hemorrhage in the Newborn:Current Understanding & Dilemmas
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The Floppy Infant: Evaluation of Hypotonia
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Muscle-Eye-Brain Disease:A Neuropathological Study
Ann Neurol 41:173-180, Haltia,M.,et al, 1997
Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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Transsection of the Spinal Cord Associated with Breech Delivery
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Rett Syndrome:Natural History and Management
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Subgaleal Hematoma, A Complication of Instrumental Delivery
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Guillain-Barre Syndrome with Hydrocephalus in Early Infancy
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