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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1
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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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The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
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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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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
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Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience