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European Journal of Preventive Cardiology|February 21, 2021
Susceptibility to ischaemic heart disease: Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factorsPaolo Severino, Andrea D'Amato, Lucrezia Netti, et al.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.International Journal of Molecular Sciences|May 13, 2023
Protection against Ischemic Heart Disease: A Joint Role for eNOS and the KATP ChannelPaolo Severino, Andrea D'Amato, Massimo Mancone, et al.American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 29, 2016
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypesElisa Giorgio, Alessandro Brussino, Elisa Biamino, et al.American Journal of Human Genetics|April 5, 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic EncephalopathyJessica X Chong, Viviana Caputo, Ian G Phelps, et al.American Journal of Human Genetics|September 27, 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAntonella Sferra, Gilbert Baillat, Teresa Rizza, et al.American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.Nature Genetics|April 28, 2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndromeFanny Kortüm, Viviana Caputo, Christiane K Bauer, et al.American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.Pageof 7