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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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A clinical scoring system for congenital contractural arachnodactyly
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Two novel probands with Myhre syndrome identified through WES
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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Myhre syndrome : broadening the phenotypic spectrum
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Myhre syndrome : broadening the phenotypic spectrum