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1. Indebtedness around the world : is the sky the limit ?

6. Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

9. Modifications to the Active Living Every Day (ALED) Course for Adults With Arthritis

10. Reliable noninvasive prenatal testing by massively parallel sequencing on circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

11. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome

12. Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome

13. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan

14. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of [alpha]-dystroglycan

15. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.

16. Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.

17. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

18. The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.

19. Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.

20. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

21. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

23. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

24. Copy number alterations and copy number variation in cancer: close encounters of the bad kind.

28. Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

29. arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

30. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

31. Azepinone-Containing Tetrapeptide Analogues of Melanotropin Lead to Selective hMC4R Agonists and hMC5R Antagonist.

32. Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture.

33. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

34. Amino triazolo diazepines (Ata) as constrained histidine mimics.

35. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

36. Design of novel neurokinin 1 receptor antagonists based on conformationally constrained aromatic amino acids and discovery of a potent chimeric opioid agonist-neurokinin 1 receptor antagonist.

37. Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.

38. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

39. Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

40. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.

41. Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

42. The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.

43. Unusual 8p inverted duplication deletion with telomere capture from 8q.

44. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

45. Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome.

46. Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12.

47. Modifications to the Active Living Every Day (ALED) course for adults with arthritis.

48. Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.

49. Reversibility after female sterilization.

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