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.
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. Read more about An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization. Read more about Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.
Brachydactylic multiple delta phalanges plus syndrome. Read more about Brachydactylic multiple delta phalanges plus syndrome.
Trisomy 21 is associated with variable defects in cytotrophoblast differentiation along the invasive pathway. Read more about Trisomy 21 is associated with variable defects in cytotrophoblast differentiation along the invasive pathway.
