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1. FOXI3 pathogenic variants cause one form of craniofacial microsomia

2. The complete sequence of a human genome

5. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

6. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

7. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

9. New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2.

10. Specific Susceptibility to COVID-19 in Adults with Down Syndrome

11. Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer’s Disease

12. Regulatory Functional Landscape of the HMX1 Gene for Normal Ear Development

13. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

14. PIGG variant pathogenicity assessment reveals characteristic features within 19 families

15. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

16. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

19. Correction to: Specific Susceptibility to COVID-19 in Adults with Down Syndrome

21. Multi-omic measurements of heterogeneity in HeLa cells across laboratories

22. Landscape of transcription in human cells

23. Meiotic and Epigenetic Defects in Dnmt3L-Knockout Mouse Spermatogenesis

25. Common genetic variation and the control of HIV-1 in humans.

28. Down syndrome

30. List of Contributors

32. Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

33. Biallelic variants in KIF14 cause intellectual disability with microcephaly

34. Supplementary Methods, Legends and Table 1 from Pericentromeric Instability and Spontaneous Emergence of Human Neoacrocentric and Minute Chromosomes in the Alternative Pathway of Telomere Lengthening

35. Data from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

36. Data from Pericentromeric Instability and Spontaneous Emergence of Human Neoacrocentric and Minute Chromosomes in the Alternative Pathway of Telomere Lengthening

37. Supplementary Figures 1-5, Tables 1-5 from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

38. Supplementary Figures 1-4 from Pericentromeric Instability and Spontaneous Emergence of Human Neoacrocentric and Minute Chromosomes in the Alternative Pathway of Telomere Lengthening

39. Supplementary Figure 7 from Pericentromeric Instability and Spontaneous Emergence of Human Neoacrocentric and Minute Chromosomes in the Alternative Pathway of Telomere Lengthening

40. Supplementary Figure 5 from Pericentromeric Instability and Spontaneous Emergence of Human Neoacrocentric and Minute Chromosomes in the Alternative Pathway of Telomere Lengthening

41. Supplementary Figure Legends 1-5 from A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

42. Supplementary Figure 6 from Pericentromeric Instability and Spontaneous Emergence of Human Neoacrocentric and Minute Chromosomes in the Alternative Pathway of Telomere Lengthening

43. Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants ofCYP2U1

45. Human Hemoglobin

50. Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

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