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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
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- Journal Article
- A1
- open access
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
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- Journal Article
- A1
- open access
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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- Journal Article
- A1
- open access
A reassessment of copy number variations in congenital heart defects : picturing the whole genome
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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation