235 results on '"Fryns, J.-P."'
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2. Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male
3. Hereditary hydronephrosis and the short arm of chromosome 6
4. “Spontaneous” FRA16B is a hot spot for sister chromatid exchanges
5. Selective advantage of fra (X) heterozygotes
6. London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001: R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, £1595
7. The Coffin syndrome
8. Partial trisomy 18q in a newborn with typical 18 trisomy phenotype
9. Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11)
10. Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn-karyotype: 46,XX,del(2)(q21;q24)
11. Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome
12. Partial trisomy for the long arm of chromosome 3 [3(q21→qter)+] in a newborn with minor physical stigmata
13. Y to X translocation in man
14. Primary mesodermal dysgenesis of the cornea (Peters' anomaly) in two brothers
15. Partial monosomy of the long arm of chromosome 16: A distinct clinical entity?
16. Partial duplication of the short arm of chromosome 10: Karyotype: 46,XX,dup(10p)(pter→p12::p12::p12→qter)
17. Familial occurrence of severe ulnar aplasia and lobster claw feet: A new syndrome
18. Ring chromosome 22 in a mentally retarded child and mosaic 45,XX,-15,-22,+t(15;22)(p11;q11)/ 46,XX,r(22)/46,XX karyotype in the mother
19. Down's syndrome in brother and sister without evident trisomy 21
20. Cytogenetic survey in couples with recurrent fetal wastage
21. Paracentric inversion in man: Personal experience and review of the literature
22. The Meckel syndrome. Pathological and cytogenetic observations in eight cases
23. Full monosomy 21: A clinically recognizable syndrome?
24. Partial monosomy of the short arm of chromosome 9: A distinct clinical entity
25. Pericentric inversions in man: personal experience and review of the literature
26. Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9
27. Excess of mental retardation and/or congenital malformation in reciprocal translocations in man
28. Paracentric inversions in man
29. Partial trisomy 14q due to familial t(14q-, 11q+) translocation
30. The Aarskog syndrome
31. Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype
32. Partial trisomy of the short arm of chromosome 3 (3p25→3pter): A distinct clinical entity
33. Interstitial delection of the long arm of chromosome 8: Karyotype: 46,XY,del(8)(q21)
34. Partial trisomy 17q: Karyotype: 46,XY,der(21),t(17;21)(q22;p13)
35. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
36. Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis
37. Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro
38. Ring chromosome 15 syndrome
39. Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome
40. Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21)
41. Paracentric inversion in the short arm of chromosome 1
42. Partial duplication of the short arm of chromosome 9 (p13→p22) in a child with typical 9p trisomy phenotype
43. Unusually long survival in a case of full triploidy of maternal origin
44. Congenital scalp defects associated with postaxial polydactyly
45. Sex-linked recessive inheritance in Charcot-Marie-Tooth disease with partial clinical manifestations in female carriers
46. Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency
47. The various phenotypes in Xp deletion. Observations in eleven patients
48. Scalp defect associated with postaxial polydactyly: Confirmation of a distinct entity with autosomal dominant inheritance
49. Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata
50. 9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata: Another specific chromosomal site (18pter) in dominantly inherited multiple tumors?
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