148 results on '"Caraffi, Stefano Giuseppe"'
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. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
7. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding
8. ‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’
9. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals
10. Alazami syndrome: the first case of papillary thyroid carcinoma
11. 'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
12. 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.
13. Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
14. 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
15. Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
16. Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures
17. Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review
18. Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3
19. ‘A novel TRIP4Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’
20. Mowat-Wilson syndrome: growth charts
21. Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.
22. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
23. Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
24. ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection
25. MCPH1: A Novel Case Report and a Review of the Literature
26. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
27. Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies
28. Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
29. Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
30. A monoallelicSEC23Avariant E599K associated with cranio‐lenticulo‐sutural dysplasia
31. Correspondence on “Disorder of sex development associated with a novel homozygous nonsense mutation inCOG6expands the phenotypic spectrum ofCOG6 ‐CDG”
32. The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects
33. Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
34. 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
35. Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
36. Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature
37. Additional file 1 of Mowat-Wilson syndrome: growth charts
38. Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies
39. A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia.
40. Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.( P139L) of theCAMK2Bgene: A case report and brief review
41. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding
42. Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy
43. Mowat-Wilson Syndrome: Growth Charts
44. Alazami syndrome: the first case of papillary thyroid carcinoma
45. Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study
46. Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
47. Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
48. Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes
49. Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients
50. Analysis of TNFRSF5 gene mutations and splicing variants in CD40 receptor regulation
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