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American Journal of Medical Genetics. Part A|April 14, 2007
Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosisOlaya Villa, Miguel Del Campo, Marta Salido, et al.Genes|January 8, 2020
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual DisabilityNekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, et al.Human Molecular Genetics|February 28, 2009
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorderIvon Cuscó, Andrés Medrano, Blanca Gener, et al.American Journal of Medical Genetics. Part A|April 1, 2009
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndromeDagmar Wieczorek, Blanca Gener, Ma Jesús Martínez González, et al.Journal of Medical Genetics|March 30, 2021
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridiaMaria Tarilonte, Patricia Ramos, Jennifer Moya, et al.Nature Genetics|March 18, 2003
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromeJeanne Amiel, Béatrice Laudier, Tania Attié-Bitach, et al.Bone|November 26, 2013
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosisAlessandra Pangrazio, Alessandro Puddu, Manuela Oppo, et al.Clinical and Translational Medicine|January 19, 2021
Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trialArantza Infante, Blanca Gener, Miguel Vázquez, et al.Cell and Tissue Research|March 19, 2024
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitroRoberta De Mori, Silvia Tardivo, Lidia Pollara, et al.Molecular Autism|May 14, 2015
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disordersMarta Codina-Solà, Benjamín Rodríguez-Santiago, Aïda Homs, et al.Pageof 6