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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Genes, Recessive
Academic Article Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Academic Article Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
Academic Article The molecular landscape of ASPM mutations in primary microcephaly.
Academic Article WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Academic Article Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
Academic Article Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Academic Article Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
Academic Article New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Academic Article The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
Academic Article RTTN mutations link primary cilia function to organization of the human cerebral cortex.
Academic Article Diagnostic criteria for Walker-Warburg syndrome.
Academic Article Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
Academic Article Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Search Criteria
  • Genes Recessive