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Communications Biology|July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephalyAmama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
Frontiers in Psychiatry|March 21, 2022
Concept of the Munich/Augsburg Consortium Precision in Mental Health for the German Center of Mental HealthPeter Falkai, Nikolaos Koutsouleris, Katja Bertsch, et al.
Clinical Genetics|May 26, 2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorderMaria B Christensen, Amanda M Levy, Nazanin A Mohammadi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 17, 2024
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association StudiesBjörn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, et al.
American Journal of Human Genetics|July 19, 2011
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseAlexander Zimprich, Anna Benet-Pagès, Walter Struhal, et al.
Molecular Psychiatry|September 25, 2021
Clinico-genetic findings in 509 frontotemporal dementia patientsMatias Wagner, Georg Lorenz, Alexander E Volk, et al.
Health Policy (Amsterdam, Netherlands)|October 29, 2021
Balancing financial incentives during COVID-19: A comparison of provider payment adjustments across 20 countriesRuth Waitzberg, Sophie Gerkens, Antoniya Dimova, et al.
American Journal of Respiratory and Critical Care Medicine|June 9, 2015
Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic RiskAnnegret Fischer, David Ellinghaus, Marcel Nutsua, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
The New England Journal of Medicine|February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathyPaulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.
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