30 results on '"Cogliati, Francesca"'
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2. Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
3. Recent insights into genotype–phenotype relationships in patients with Rett syndrome using a fine grain scale
4. The phenotype of SCN8A developmental and epileptic encephalopathy
5. SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features
6. Epilepsy in Rett syndrome: Clinical and genetic features
7. Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders
8. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
9. Low‐grade parental gonosomal mosaicism in CHD2siblings with Smith–Magenis‐like syndrome
10. Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes
11. Rett Networked Database: An Integrated Clinical and Genetic Network of Rett Syndrome Databases
12. Medical Care of Adolescents and Women With Rett Syndrome: An Italian Study
13. A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith–Wiedemann syndrome
14. Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
15. Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
16. Analysis of the Phenotypes in the Rett Networked Database
17. Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS
18. The phenotype of developmental and epileptic encephalopathy
19. Blood oxidative stress and metallothionein expression in Rett syndrome: Probing for markers
20. Somatic Mosaicism as Modulator of the Global and Intellectual Phenotype in Epimutated Angelman Syndrome Patients
21. Putative identification of susceptibility genes for autism on 15q11-q13: Role of UBE3A and ATP10A
22. Think About It
23. Blood oxidative stress and metallothionein expression in Rett syndrome: Probing for markers.
24. Medical care of adolescents and women with Rett syndrome: An Italian study
25. Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome
26. SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
27. Refined FISH characterization of a de novo 1p22p36.2 paracentric inversion and associated 1p2122 deletion in a patient with signs of 1p36 microdeletion syndrome
28. Think About It: FMR1 Gene Mosaicism.
29. Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
30. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
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