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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Molecular Diagnostic Techniques
Concept Brain Neoplasms
Academic Article PRKDC mutations in a SCID patient with profound neurological abnormalities.
Academic Article Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
Academic Article Familial cavernous malformations of the central nervous system and retina.
Academic Article Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Academic Article Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
Academic Article Neuropathology of brain and spinal malformations in a case of monosomy 1p36.
Academic Article LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Academic Article Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.
Academic Article Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Academic Article Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Academic Article Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
Academic Article Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Academic Article De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Academic Article Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Grant ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
Grant The genetic basis of Dandy-Walker and other mid-hindbrain malformations
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  • Neuropathology
  • including
  • Molecular Diagnostics
  • Brain Tumors