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Nephron|February 14, 2018
Mannose-Binding Lectin2 Gene Polymorphism and IgG4 in Membranous NephropathyDenise Maria do Nascimento Costa, Lucila Maria Valente, Gisele Vajgel Fernandes, et al.
Molecular Genetics and Metabolism|August 6, 2013
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibersValeria Guglielmi, Gaetano Vattemi, Francesca Gualandi, et al.
AJNR. American Journal of Neuroradiology|October 15, 2024
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric StudyLudovica Pasca, Filippo Arrigoni, Romina Romaniello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2019
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locusFederica Maria Valente, Angela Sparago, Andrea Freschi, et al.
Brain : a Journal of Neurology|October 8, 2020
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonismMax Borsche, Inke R König, Sylvie Delcambre, et al.
Brain : a Journal of Neurology|August 15, 2019
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2Roberta De Mori, Mariasavina Severino, Maria Margherita Mancardi, et al.
Neurology. Genetics|March 31, 2017
<i>GNAO1</i> encephalopathy: Broadening the phenotype and evaluating treatment and outcomeFederica Rachele Danti, Serena Galosi, Marta Romani, et al.
International Journal of Immunogenetics|June 28, 2021
CIITA gene polymorphism (rs3087456) in systemic lupus erythematosus and rheumatoid arthritis: A population-based cohort studySuelen Cristina Lima, Isaura Isabelle Fonseca Gomes da Silva, Denise de Queiroga Nascimento, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 6, 2022
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective StudyMarco Percetti, Giulia Franco, Edoardo Monfrini, et al.
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