232 results on '"Caraffi, Stefano"'
Search Results
2. Identification of the DNA methylation signature of Mowat-Wilson syndrome
3. Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders
4. Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1
5. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
6. Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency.
7. Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals
8. Identification of the DNA methylation signature of Mowat-Wilson syndrome
9. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding
10. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
11. ‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’
12. Alazami syndrome: the first case of papillary thyroid carcinoma
13. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals
14. Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report
15. Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
16. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
17. Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation
18. Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
19. Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures
20. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
21. Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review
22. Mowat-Wilson syndrome: growth charts
23. 'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
24. Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature.
25. Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.
26. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
27. Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3
28. Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
29. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
30. ‘A novel TRIP4Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’
31. ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
32. MCPH1:A Novel Case Report and a Review of the Literature
33. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
34. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
35. MCPH1: A Novel Case Report and a Review of the Literature
36. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
37. Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies
38. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
39. Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
40. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
41. Different molecular behavior of CD40 mutants causing hyper-IgM syndrome
42. Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
43. Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
44. A monoallelicSEC23Avariant E599K associated with cranio‐lenticulo‐sutural dysplasia
45. Correspondence on “Disorder of sex development associated with a novel homozygous nonsense mutation inCOG6expands the phenotypic spectrum ofCOG6 ‐CDG”
46. The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects
47. Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
48. MMPs and angiogenesis affect the metastatic potential of a human vulvar leiomyosarcoma cell line
49. Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
50. Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature
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