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Genes|March 29, 2023
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental DisordersNino Spataro, Juan Pablo Trujillo-Quintero, Carmen Manso, et al.Behavior Genetics|June 9, 2018
High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric DisordersMarina Viñas-Jornet, Susanna Esteba-Castillo, Neus Baena, et al.Journal of Clinical Immunology|March 31, 2016
Novel Mutations Causing C5 Deficiency in Three North-African FamiliesRoger Colobran, Clara Franco-Jarava, Andrea Martín-Nalda, et al.Frontiers in Genetics|February 15, 2024
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndromeCarmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, et al.Gene|July 16, 2017
RNA editing independently occurs at three mir-376a-1 sites and may compromise the stability of the microRNA hairpinAlicia Gallego, Diego A Hartasánchez, Marina Brasó-Vives, et al.The Pharmacogenomics Journal|December 7, 2019
Genetic contribution to lipid target achievement with statin therapy: a prospective studyCristina Ruiz-Iruela, Beatriz Candás-Estébanez, Xavier Pintó-Sala, et al.Clinical Genetics|October 2, 2019
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait maculesElisabeth Castellanos, Inma Rosas, Alex Negro, et al.Plos One|September 30, 2016
Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi SyndromeMarta Bueno, Susanna Esteba-Castillo, Ramon Novell, et al.Plos One|October 15, 2021
New genes involved in Angelman syndrome-like: Expanding the genetic spectrumCinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, et al.Plos One|October 11, 2018
KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatmentCristina Ruiz-Iruela, Ariadna Padró-Miquel, Xavier Pintó-Sala, et al.Pageof 3