Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging. Read more about Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging.
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Read more about Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. Read more about Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion. Read more about Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. Read more about Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.
Genotype-phenotype analysis of the branchio-oculo-facial syndrome. Read more about Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
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.
