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2. Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype.

4. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

5. Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1

6. Mapping the human DC lineage through the integration of high-dimensional techniques

7. European lipodystrophy registry: background and structure

8. A Pellino‐2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia

11. Cornelia de Lange syndrome and cancer: An open question

15. Peters Plus Syndrome

16. Psychological and Speech Studies in Rubinstein-Taybi Syndrome.

17. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

18. 5p13 microduplication in a malformed fetus and his unaffected father.

21. Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity

23. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

25. Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

26. Purine and Pyrimidine Metabolism

28. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

31. Broad Thumbs and Great Toes

32. Bowenoid Papulosis

33. BPAD

34. Budd-Chiari Syndrome

35. Batten Disease

36. Brachydactyly-Clinodactyly

37. Brachydactyly Type B

38. Barrett Esophagus

39. Bethlem Myopathy

40. Benign Joint Hypermobility Syndrome

41. Bloch-Sulzberger Syndrome

42. Bone Marrow Infiltration

43. Best's Vitelliform Macular Dystrophy

44. Blackfan-Diamond Syndrome

45. Brugada Syndrome

46. Benign Familial Neonatal, Neonatal-infantile or Infantile Convulsions

47. Birth Asphyxia

48. Brooke-Fordyce Trichoepitheliomas

49. Bussey-Gardner Polyposis

50. Branchio-oto-renal Syndrome

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