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Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients
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- Journal Article
- A1
- open access
Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients
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Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
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Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
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Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
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Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
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- Journal Article
- A1
- open access
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1
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Application of a custom designed broad cancer predisposition gene panel for the analysis of patients with a personal and/or family history of pancreatic cancer
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Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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- Journal Article
- A1
- open access
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation
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DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system
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Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder
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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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Cytomegalovirus DNA detection in Guthrie cards : role in the diagnostic work-up of childhood hearing loss
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome