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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
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- Journal Article
- A1
- open access
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
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BATCH-GE : analysis of NGS data for genome editing assessment
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IRF2BPL is associated with neurological phenotypes
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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Future perspectives of genome-scale sequencing
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- Miscellaneous
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)
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- Journal Article
- A1
- open access
arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
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Myhre syndrome : broadening the phenotypic spectrum
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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Myhre syndrome : broadening the phenotypic spectrum
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Congenital contractural arachnodactyly : delineation of clinical criteria
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- Journal Article
- A1
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment
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Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome
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A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Congenital contractural arachnodactyly
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- Journal Article
- A1
- open access
CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis
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- Journal Article
- A1
- open access
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP
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- Journal Article
- A1
- open access
Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family
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RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
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Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome
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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
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- Journal Article
- A1
- open access
Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population
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- Journal Article
- A1
- open access
Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum
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Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
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Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development
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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
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Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing
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- Journal Article
- A1
- open access
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans