987 results on '"Digilio, Maria Cristina"'
Search Results
2. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
3. DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
4. Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature
5. Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature
6. Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
7. Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder
8. Williams–Beuren syndrome shapes the gut microbiota metaproteome
9. FOXI3 pathogenic variants cause one form of craniofacial microsomia
10. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
11. Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
12. Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case
13. Ellis-Van Creveld Syndrome
14. Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease
15. Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management
16. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
17. Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care
18. Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor
19. Primary pediatric care for children and youth with 22q11.2 deletion syndrome
20. Contributors
21. Congenital heart disease and cardiovascular abnormalities associated with 22q11.2 deletion syndrome
22. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
23. Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
24. Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants
25. Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition
26. Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review
27. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams–Beuren Syndrome
28. Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
29. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
30. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
31. Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology
32. TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations
33. Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1
34. Impact of genetic studies on comprehension and treatment of congenital heart disease
35. Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
36. A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum
37. Prenatal versus Postnatal Diagnosis of 22q11.2 Deletion Syndrome: Cardiac and Non-Cardiac Outcomes through 1 Year of Age
38. Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience
39. Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome
40. Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies
41. Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.
42. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
43. Genetics of atrioventricular canal defects
44. Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review
45. Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
46. Gain-of-function SOS1 mutations cause a distinctive form of noonan syndrome
47. The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
48. Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements
49. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
50. Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series
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