1,126 results on '"Zackai, Elaine"'
Search Results
2. Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
3. Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
5. Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review
6. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
7. Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
8. Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
9. Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications
10. Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
11. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder
12. Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly
13. Anesthesia and sedation exposure and neurodevelopmental outcomes in infants undergoing congenital cardiac surgery: a retrospective cohort study
14. Surgical insights and management in patients with the 22q11.2 deletion syndrome
15. Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing
16. Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
17. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
18. Chromatin Modifications in 22q11.2 Deletion Syndrome
19. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
20. Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies
21. A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome
22. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
23. A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development
24. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
25. Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome.
26. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
27. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
28. Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly
29. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
30. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
31. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
32. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
33. Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome
34. Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns
35. Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome
36. Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome.
37. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
38. Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome
39. Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life-Saving Care
40. A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development
41. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
42. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4
43. Human Chromosome 7: DNA Sequence and Biology
44. White matter microstructural deficits in 22q11.2 deletion syndrome
45. Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study
46. The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome
47. Association of airway abnormalities with 22q11.2 deletion syndrome
48. Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)
49. A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery.
50. Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
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