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European Journal of Medical Genetics|November 21, 2022
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart diseaseCarolina Putotto, Marta Unolt, Caterina Lambiase, et al.Advanced Drug Delivery Reviews|December 23, 2021
HuR-targeted agents: An insight into medicinal chemistry, biophysical, computational studies and pharmacological effects on cancer modelsGiulia Assoni, Valeria La Pietra, Rosangela Digilio, et al.BMC Medical Genetics|January 4, 2014
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjectsEmilia Cirillo, Giuliana Giardino, Vera Gallo, et al.American Journal of Medical Genetics. Part A|January 14, 2021
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotypeMaria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, et al.Journal of Clinical Medicine|February 15, 2022
Syndromic and Non-Syndromic Patients with Repaired Tetralogy of Fallot: Does It Affect the Long-Term Outcome?Giulio Calcagni, Camilla Calvieri, Anwar Baban, et al.Clinical Genetics|June 29, 2025
Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal AnomaliesChiara Minotti, Sara Terreri, Andrea Del Fattore, et al.American Journal of Medical Genetics. Part A|March 4, 2020
KBG syndrome: Common and uncommon clinical features based on 31 new patientsMaria Gnazzo, Francesca R Lepri, Maria Lisa Dentici, et al.International Journal of Molecular Sciences|June 2, 2021
Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion TranscriptMarta Colletti, Angela Galardi, Evelina Miele, et al.Clinical Genetics|May 16, 2022
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-upDavide Vecchio, Dario Cocciadiferro, Marina Macchiaiolo, et al.Clinical Genetics|March 18, 2021
Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 geneEmanuele Agolini, Elena Botta, Mariachiara Lodi, et al.Pageof 56