2,208 results on '"Fryns, J.-P."'
Search Results
2. Intellectual Abilities in a Large Sample of Children with Velo-Cardio-Facial Syndrome: An Update
3. Phenotypic Checklist To Screen for Fragile X Syndrome in People with Mental Retardation.
4. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
5. Triple Test Screening for Down Syndrome : Looking Back on a False-Positive Result and Having or Not Having a Triple Test in Subsequent Pregnancies
6. Clinical Etiological Survey of a Population of 471 Mentally Retarded Patients Living in an Institution in the Southern Part of the Netherlands
7. Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
8. Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis
9. PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse
10. Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia
11. Twin reversed arterial perfusion sequence presenting as intrauterine cyst
12. Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism
13. Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated
14. Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male
15. DISC1 duplication in two brothers with autism and mild mental retardation
16. Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
17. Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling
18. Vesico-ureteral reflux: a genetic condition?
19. Novel PORCN mutations in focal dermal hypoplasia
20. Deletions in the VPS13B (COH1) Gene as a Cause of
21. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
22. 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
23. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
24. The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15
25. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
26. Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
27. The cardiofaciocutaneous syndrome: prenatal findings in two patients
28. A case of left isomerism with early fetal decompensation
29. Prenatal diagnosis of schizencephaly after inhalation of organic solvents
30. Mathematical disabilities in children with velo-cardio-facial syndrome
31. Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly
32. Alterations of uromodulin biology: A common denominator of the genetically heterogeneous FJHN/MCKD syndrome
33. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
34. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
35. Findings From aCGH in Patients With Congenital Diaphragmatic Hernia (CDH):: A Possible Locus for Fryns Syndrome
36. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients
37. Het Williams-Beuren-syndroom
38. Hereditary hydronephrosis and the short arm of chromosome 6
39. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
40. Increased nuchal translucency thickness in thrombocytopenia-absent-radius syndrome
41. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
42. Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children
43. Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes
44. Anogenital malformation with ambiguous genitalia as part of the OEIS complex
45. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
46. ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism
47. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
48. Partial trisomy 3p/monosomy 9p with sex reversal
49. Predictive testing for Huntingtonʼs disease: relationship with partners after testing
50. “Spontaneous” FRA16B is a hot spot for sister chromatid exchanges
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