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Dobyns, William
One or more keywords matched the following items that are connected to
Dobyns, William
Item Type
Name
Concept
Diagnosis, Differential
Academic Article
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
Academic Article
Benign hereditary chorea.
Academic Article
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
Academic Article
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
Academic Article
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Academic Article
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article
The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome.
Academic Article
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
Academic Article
Autosomal dominant torsion dystonia with onset in infancy.
Academic Article
A developmental and genetic classification for malformations of cortical development.
Academic Article
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.
Academic Article
MICRO syndrome: an entity distinct from COFS syndrome.
Academic Article
Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families.
Academic Article
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Academic Article
Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians.
Search Criteria
Diagnosis Differential