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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

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

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

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

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

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

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

16. The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

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

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

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

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

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

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

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

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

30. Evidence of digenic inheritance in Alport syndrome

32. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

34. Genetic mechanisms of critical illness in COVID-19

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

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

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

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

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

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

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

49. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

50. RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

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