201 results on '"Giltay, Jacques C."'
Search Results
2. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
3. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
4. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
5. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
6. LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome
7. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
8. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
9. Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
10. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
11. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
12. Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development
13. Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors
14. The genetic basis of DOORS syndrome: an exome-sequencing study
15. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
16. Familial Male-Limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors
17. Heterozygous Variants in the DNA-binding Domain of c-Myb May Affect Normal B/T Cell Development
18. Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y)
19. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
20. Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y):Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y)
21. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
22. Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
23. Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
24. Attitudes of Klinefelter men and their relatives towards TESE-ICSI
25. Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux
26. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux
27. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
28. Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study
29. Is joint hypermobility associated with vesico-ureteral reflux? An assessment of 50 patients
30. Maternal risk associated with theVACTERLassociation: A case–control study
31. The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family†
32. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
33. Polymorphic detection of a parthenogenetic maternal and double paternal contribution to a 46,XX/46,XY hermaphrodite
34. Growth of mycoplasma transformed tTN129 cells depends on IGF-I
35. Phenotype delineation of ZNF462 related syndrome
36. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder
37. Phenotype delineation of ZNF462 related syndrome
38. Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly : clinical implications
39. Phenotype delineation of ZNF462 related syndrome
40. VSD, hypospadias and normal psychomotor development in a patient with inv dup 8(q13-q21.2)
41. A case of de novo interstitial deletion of chromosome 5(q33q34)
42. Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications
43. Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
44. Maternal risk associated with the VACTERL association: A case–control study.
45. Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue
46. Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control
47. Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control
48. Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
49. Cellular Distribution and Heterogeneity of Endothelial Cell Adhesion Receptors
50. Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue
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