422 results on '"Faletra, Flavio"'
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2. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
3. Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature
4. A new neurodevelopmental disorder linked to heterozygous variants in UNC79
5. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
6. Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4
7. The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases
8. Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature
9. Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes
10. Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates
11. Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
12. Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes
13. Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series
14. When salt is needed to grow: Answers
15. A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet
16. An unusual diagnosis for an usual test
17. Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders
18. When salt is needed to grow: Questions
19. Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
20. Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
21. What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
22. Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling
23. A new neurodevelopmental disorder linked to heterozygous variants in UNC79
24. The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma
25. The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentiles.
26. Genetic analysis of Italian patients with congenital tufting enteropathy
27. Infant with a big head and ‘crossed’ polysyndactyly
28. TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
29. Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry
30. Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.
31. Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
32. The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
33. A child without kneecaps
34. Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
35. Encefalopatie epilettiche e dello sviluppo: dalla pratica alla genetica, andata e ritorno
36. There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss
37. GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
38. Heterozygous variants inZBTB7Acause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
39. Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies
40. Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1
41. A Brain and Heart Connection: X-Linked Periventricular Heterotopia
42. Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene
43. A neonate with a ‘milky’ blood. What can it be?
44. Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening
45. Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
46. A child without kneecaps
47. Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54]
48. A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature
49. Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection
50. Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene
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