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G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin
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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
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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- Journal Article
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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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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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Two novel probands with Myhre syndrome identified through WES
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- Miscellaneous
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BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)