20 results on '"Russo, Silvia"'
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2. Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort
3. Cover Image, Volume 173A, Number 7, July 2017
4. Phenotypes and genotypes in individuals with SMC1A variants
5. Nomenclature and definition in asymmetric regional body overgrowth
6. Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
7. Complex de novo chromosomal rearrangement at 15q11–q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature
8. Cervical spine malformation in cornelia de lange syndrome: A report of three patients
9. Cornelia de Lange individuals with new and recurrentSMC1Amutations enhance delineation of mutation repertoire and phenotypic spectrum
10. Prevalence of beckwith–wiedemann syndrome in North West of Italy
11. Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures
12. Medical care of adolescents and women with Rett syndrome: An Italian study
13. Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations
14. Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A
15. A CDKL5 mutated child with precocious puberty
16. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
17. Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
18. Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.
19. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
20. Medical care of adolescents and women with Rett syndrome: an Italian study.
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