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1. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

3. The complete sequence of a human genome

4. FOXI3 pathogenic variants cause one form of craniofacial microsomia

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

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

8. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

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

10. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome

12. Rare pathogenic variants in WNK3 cause X-linked intellectual disability

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

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

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

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

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

18. Heterozygous de novo variants in HSPD1cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation

19. 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

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

21. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

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

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

25. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

26. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

28. Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

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

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

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

34. Landscape of transcription in human cells

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

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

42. Biallelic variants in KIF14 cause intellectual disability with microcephaly

43. Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

44. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

45. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

47. Human Hemoglobin

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