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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