11 results on '"Mortier, Geert"'
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2. Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities
3. Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
4. The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height
5. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
6. Unusual 8p inverted duplication deletion with telomere capture from 8q
7. Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12
8. O3: Array CGH findings in a large series of 150 patients with idiopathic mental retardation and congenital anomalies: unexpected findings and implications for future routine diagnostic screening
9. O4: Detection of structural low-grade mosaicism by array CGH
10. P28: array-CGHbase V2: an analysis platform for expression, CGH and SNP microarrays
11. Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type
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