199 results on '"Fryns, J. P."'
Search Results
2. Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia
3. Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated
4. DISC1duplication in two brothers with autism and mild mental retardation
5. NovelPORCNmutations in focal dermal hypoplasia
6. Parental perception of sleep behaviour and sleep disorders in children with VCFS and their siblings
7. Molecular karyotyping is important in determining the cause of behavioural phenotypes
8. A genetic diagnostic survey in an institutionalized population of 262 moderately mentally retarded patients: the Borgerstein experience
9. Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients
10. A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience
11. A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy
12. Fertility and X-chromosome rearrangements: isodicentric X-chromosome formation in the mother and Xp deletion in her daughter
13. Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A “new” mental retardation syndrome
14. Replication and inactivation of and isodicentric X: presence of an inactive centromere influences the replication patterns
15. Psychological findings in three children with ring 15 chromosome
16. A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X-linked mental retardation
17. Strengths and weaknesses in the cognitive profile of youngsters with Prader-Willi syndrome
18. Mental retardation with pterygia, shortness and distinct facial appearance. Confirmation of a new MCA/MR syndrome
19. Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father Clinical variability of 22q11 deletion
20. Partial trisomy and monosomy 8p due to inversion duplication
21. Population cytogenetics of autosomal fragile sites
22. Unusual in vivo rearrangements of the Y-chromosome in two males
23. Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family
24. Deletion of the long arm of chromosome 6: two new patients and literature review
25. The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers
26. Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity
27. Retinitis pigmentosa, hearing loss and vitiligo: report of two patients
28. De novo Robertsonian D/D type translocations: the Leuven experience
29. On two patients with and without the classical Wolf-Hirschhorn syndrome (WHS) sharing the same chromosome 4p16.3 specific probe deletion: evidence of a contiguous gene deletion syndrome
30. Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non-related males
31. MASA syndrome
32. Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature
33. Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5)(p13.1 → p15.3)
34. Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development
35. Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects
36. Full 69,XXY triploidy and sex-reversal: a further example of true hermaphrodism associated with multiple malformations
37. Structural abnormalities of the Y-chromosome and craniosynostosis
38. De novo 46,XX, dir dup (11)(q13.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia
39. Mental retardation with pterygia, shortness and distinct facial appearance A new MCA/MR syndrome
40. Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation
41. The hand-foot-genital syndrome: on the variable expression in affected males
42. An asymmetric type of chondrodysplasia in an adult male
43. Effect of balanced X/autosome translocations on sexual and physical development
44. Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22)
45. Identical psychological profile and behaviour pattern in different types of mutation in the FMR-1 region
46. Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias
47. Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome
48. MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/ 14q duplication
49. Association of Meckel syndrome with M-anisosplenia in one patient
50. Early clinical signs in Coffin-Lowry syndrome
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