365 results on '"Kruszka, Paul"'
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2. The human Y and inactive X chromosomes similarly modulate autosomal gene expression
3. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
4. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
5. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
6. The human inactive X chromosome modulates expression of the active X chromosome
7. Cornelia de Lange syndrome in diverse populations
8. Novel insights in Turner syndrome
9. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
10. Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism
11. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
12. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
13. The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
14. Turner Syndrome
15. Contributors
16. Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery
17. Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations
18. Low-level parental mosaicism affects the recurrence risk of holoprosencephaly
19. O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city
20. P293: Long read sequencing analysis of 120 samples with known and challenging-to-detect clinical variants
21. P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences
22. P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates
23. P149: Exome sequencing vs chromosomal microarray for copy number variant detection*
24. P014: Multiple cases of mosaic X-linked adrenoleukodystrophy in males identified through newborn screening
25. The human Y and inactive X chromosomes similarly modulate autosomal gene expression
26. Clinical Spectrum of congenital heart defects (CHD) detected at the child health Clinic in a Tertiary Health Facility in Ghana: a retrospective analysis
27. Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study
28. Diversity and dysmorphology
29. A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus
30. P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing
31. P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray
32. P148: Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing*
33. P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU*
34. Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.
35. Executive Function and Adaptive Behavior in Muenke Syndrome
36. Pediatric Age at Hematopoietic Stem Cell Transplant: Associations with Non-Malignant Genetic Disease and Race
37. Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities
38. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
39. Phenotypic continuum betweenPOLE‐related recessive disorders: A case report and literature review
40. Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects
41. Evaluation of 18,911 Individuals with Autism Reveals that Exome Analysis Provides Higher Diagnostic Rates and Reduced Time to Diagnosis than Traditional Testing Strategies (P1-1.Virtual)
42. Noonan syndrome in diverse populations
43. Cover Image, Volume 173A, Number 9, September 2017
44. Down syndrome in diverse populations
45. Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities.
46. eP281: SeqFirst-neo: Improving access equity for a precise genetic diagnosis in the NICU
47. Heart
48. Case Study Contributors
49. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)
50. Muenke syndrome: An international multicenter natural history study
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