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1. Molecular and Phenotypic Characterization of the RORB-Related Disorder

2. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

4. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

5. Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome

8. Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

9. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

10. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

11. GM3 synthase deficiency in non-Amish patients

12. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

13. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

14. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

15. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

16. Dominantly acting variants in ARF3 have disruptive consequences on Golgi integrity and cause microcephaly recapitulated in zebrafish

17. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

18. Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations

19. Drosophilafunctional screening ofde novovariants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

20. Monogenic variants in dystonia: an exome-wide sequencing study

21. Mutations in the exocyst component EXOC2 cause severe defects in human brain development

22. Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

23. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

25. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

26. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

27. Enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

29. PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

30. Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

31. A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization

32. Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization

33. A novelAPCpromoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype

34. SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type

35. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations

36. MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome

38. Loss-of-FunctionFANCLMutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

41. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

42. Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties

43. Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

44. Abstract LB-182: Constitutive activation of PRKACA in adrenal Cushing's syndrome

48. Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

49. Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

50. PRKACB and Carney Complex

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