28 results on '"Holvoet, Maureen"'
Search Results
2. Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
3. Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome
4. Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene
5. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
6. The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
7. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
8. A microduplication of CBP in a patient with mental retardation and a congenital heart defect
9. The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation
10. Partial DiGeorge syndrome in two patients with a 10p rearrangement
11. Triplication of distal chromosome 10q
12. Atypical presentation of the Prader–Willi syndrome. Mosaic Trisomy 15?
13. Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome
14. Cryptic translocation t(5;18) in familial mental retardation
15. Identification of intellectual disability genes in female patients with a skewed X-inactivation pattern
16. SPG20 mutation in three siblings with familial hereditary spastic paraplegia
17. HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability
18. IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
19. Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
20. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement ofFOXG1appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
21. A microduplication ofCBP in a patient with mental retardation and a congenital heart defect
22. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family
23. Glypican 1 gene: Good candidate for brachydactyly type E
24. Regional localization of a gene for nonspecific XLMR to Xp11.3-p11.23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1
25. Follow-up of an adult with Keutel syndrome
26. Partial DiGeorge syndrome in two patients with a 10p rearrangement
27. A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8
28. SPG20 mutation in three siblings with familial hereditary spastic paraplegia.
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