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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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- Journal Article
- A1
- open access
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
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Abnormal first trimester screen in partial deletion of chromosome 6p21: A case-report
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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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Speech and language in Wolf-Hirschhorn syndrome: a case-study
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CHIRURGISCHE AANPAK EN GENETISCHE DIAGNOSE BIJ EEN KIND MET SYNDROOM VAN MUENKE.
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Occipital Horn syndrome in a 2-year-old boy.
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The annual incidence of DiGeorge/velocardiofacial syndrome.
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Hyperacusis in Williams syndrome: A sample survey study.
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Lens dislocation and optic-nerve hypoplasia in ring chromosome-21 mosaicism.