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30 results on '"Renieri, Alessandra"'

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1. Solving unsolved rare neurological diseases-a Solve-RD viewpoint

2. An explainable model of host genetic interactions linked to COVID-19 severity

3. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

4. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

5. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

6. Variants in the SK₂ channel gene (KCNN₂) lead to dominant neurodevelopmental movement disorders

7. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

8. FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

9. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

10. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

11. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

12. Investigation of modifier genes within copy number variations in Rett syndrome

13. Array comparative genomic hybridization in retinoma and retinoblastoma tissues

14. A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

15. A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears

16. Is HSD17B1 a new sex reversal gene in human?

17. Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing.

18. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

19. Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

20. A first update on mapping the human genetic architecture of COVID-19

21. Human CRY1 variants associate with attention deficit/hyperactivity disorder

22. Mapping the human genetic architecture of COVID-19

23. RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome

24. iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome

25. Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

26. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

27. Clonality analysis of immunoglobulin gene rearrangement by next-generation sequencing in endemic burkitt lymphoma suggests antigen drive activation of bcr as opposed to sporadic burkitt lymphoma

28. Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome

29. A case report: bone marrow mesenchymal stem cells from a Rett syndrome patient are prone to senescence and show a lower degree of apoptosis

30. KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs

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