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Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2
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- Journal Article
- A1
- open access
G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin
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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
Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
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G protein-coupled receptor kinase 6 (GRK6) regulation of insulin processing and secretion
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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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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- Journal Article
- A1
- open access
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline