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1. A first update on mapping the human genetic architecture of COVID-19

2. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

3. Mapping the human genetic architecture of COVID-19

4. KMT2D haploinsufficiency in Kabuki syndrome disrupts neuronal function through transcriptional and chromatin rewiring independent of H3K4-monomethylation

5. DNA Methylation in the Diagnosis of Monogenic Diseases.

6. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

7. Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

8. A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

9. Dissecting KMT2D missense mutations in Kabuki syndrome patients

10. TRIM50 regulates Beclin 1 proautophagic activity

11. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

12. Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

13. Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping.

14. DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

15. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

16. FOXI3 pathogenic variants cause one form of craniofacial microsomia.

17. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

18. Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.

19. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.

20. DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

21. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

22. Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.

23. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.

24. Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1 .

25. Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration.

26. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.

27. Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

28. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

29. TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability.

30. DNA Methylation in the Diagnosis of Monogenic Diseases.

31. Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.

32. Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene.

33. A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.

34. Dissecting KMT2D missense mutations in Kabuki syndrome patients.

35. TRIM50 regulates Beclin 1 proautophagic activity.

36. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

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