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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
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- Journal Article
- A1
- open access
Enhanced MCP-1 release in early autosomal dominant polycystic kidney disease
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Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations
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- Journal Article
- A1
- open access
Metal mining and birth defects : a case-control study in Lubumbashi, Democratic Republic of the Congo
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Prenatally detected copy number variants in a national cohort : a postnatal follow-up study
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- Miscellaneous
- open access
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
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- Journal Article
- A1
- open access
Large expert-curated database for benchmarking document similarity detection in biomedical literature search
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- Journal Article
- A1
- open access
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
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Arterial tortuosity syndrome : 40 new families and literature review
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
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- Journal Article
- A1
- open access
ACTB loss-of-function mutations result in a pleiotropic developmental disorder
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Congenital malformations and trace metals: a case-control study from Lubumbashi, DR Congo
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Arterial tortuosity syndrome : 40 new families and literature review
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Arterial tortuosity syndrome : 37 new families and literature review
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- Journal Article
- A1
- open access
Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients
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Arterial tortuosity syndrome : 29 novel families
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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
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Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations
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Unilateral giant cell lesion of the jaw in Noonan syndrome
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
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- Journal Article
- A1
- open access
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1
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- Journal Article
- A1
- open access
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
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Haploinsufficiency of TAB2 causes congenital heart defects in humans
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IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign
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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region (vol 45, pg 672, 2008)
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Mapping of 5q35 chromosomal rearrangements within a genomically unstable region
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
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Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families
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NovelFGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis
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Een Belgische patiënt met Arterial Tortuosity Syndrome
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A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies
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Subtelomeric imbalances in phenotypically normal individuals
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Guidelines for molecular karyotyping in constitutional genetic diagnosis
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Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features : a new syndrome?
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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
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Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis
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Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders
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Middle and inner ear malformations in velocardiofacial syndrome
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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
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Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation
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The V2O5/TiO2 (anatase) model catalyst structure: XPD study and single scattering cluster simulations.
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Occipital Horn syndrome in a 2-year-old boy.