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2. Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci

3. A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

4. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

5. Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

6. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

7. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

9. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

10. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

11. New insights into the phenotype of FARS2 deficiency

12. Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci.

13. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

14. Comparative 3D genome analysis between neural retina and RPE reveals differentialcis-regulatory interactions at retinal disease loci

15. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

16. A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

17. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

18. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

21. Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

22. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

23. HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

26. A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

27. A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

28. Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

29. Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

30. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

32. HDAC9structural variants disruptingTWIST1transcriptional regulation lead to craniofacial and limb malformations

33. A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome

36. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

38. Expanding the Phenotype of B3GALNT2-Related Disorders.

39. A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett like characteristics

40. HDAC9structural variants disrupting TWIST1transcriptional regulation lead to craniofacial and limb malformations

41. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

42. A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics

43. Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

46. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

47. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

48. Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

49. Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.

50. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

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