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Acta Paediatrica (Oslo, Norway : 1992)|January 17, 2017
Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndromeStefano Stagi, Mariarosaria Di Tommaso, Perla Scalini, et al.
Genes|September 28, 2021
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame DeletionsValentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|March 12, 2020
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical settingRita Barone, Mariangela Gulisano, Renata Amore, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 27, 2017
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1Anna Rubegni, Tiziana Pisano, Giacomo Bacci, et al.
Molecular and Clinical Oncology|March 9, 2019
A microRNA profile of pediatric glioblastoma: The role of NUCKS1 upregulationLaura Giunti, Martina Da Ros, Veronica De Gregorio, et al.
Orphanet Journal of Rare Diseases|March 2, 2011
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case reportMaria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, et al.
BMC Medical Genetics|June 3, 2014
Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndromeStefano Stagi, Elisabetta Lapi, Maria Gabriella D'Avanzo, et al.
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