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1. Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

2. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

3. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

4. FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

7. GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

8. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

9. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

12. Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype

13. Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

14. A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

15. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

16. Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

17. Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients

18. The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

19. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

20. Natural history of KBG syndrome in a large European cohort

23. Natural history of KBG syndrome in a large European cohort

25. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

27. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

28. Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

30. Novel retinal finding in a patient with 4q12 deletion

31. Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

32. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

33. Evidence of digenic inheritance in Alport syndrome

34. Mapping the human genetic architecture of COVID-19

36. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

38. Genetic mechanisms of critical illness in COVID-19

40. Targeted next-generation sequencing appoints C16orf57 as Clericuzio-type poikiloderma with neutropenia gene

41. SPTBN5 , Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.

42. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

43. IQSEC2disorder: A new disease entity or a Rett spectrum continuum?

44. FOXG1variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development

45. FOXG1 is responsible for the congenital variant of Rett syndrome

50. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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