- ORCID iD
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0000-0001-5502-0568
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Evaluation of the diagnostic yield of exome-based panels for congenital heart defects in different clinical settings
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Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)
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- Journal Article
- A1
- open access
Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations
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Success rate of primary percutaneous balloon angioplasty in children with pulmonary stenosis and Noonan syndrome
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The effect of statins on vascular function in adolescents with familial hypercholesterolemia : a literature review
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- Journal Article
- A1
- open access
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
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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
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
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
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Expanding the phenotypic and molecular landscape of syndromic and isolated congenital heart defects : a future for phenotype-first and genotype-first approaches
(2021)