Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. Read more about Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. Read more about What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers.
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Read more about Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
Brainstem disconnection associated with nodular heterotopia and proatlantal arteries. Read more about Brainstem disconnection associated with nodular heterotopia and proatlantal arteries.
Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder. Read more about Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.
Evidence that SIZN1 is a candidate X-linked mental retardation gene. Read more about Evidence that SIZN1 is a candidate X-linked mental retardation gene.
Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007. Read more about Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007.
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites. Read more about Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. Read more about Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.
Comprehensive EMX2 genotyping of a large schizencephaly case series. Read more about Comprehensive EMX2 genotyping of a large schizencephaly case series.