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European Journal of Human Genetics : EJHG|March 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomaliesMiriam S Reuter, Michael Zech, Maja Hempel, et al.
Annals of Neurology|December 3, 2019
Identification of Restless Legs Syndrome Genes by Mutational Load AnalysisErik Tilch, Barbara Schormair, Chen Zhao, et al.
European Journal of Nutrition|December 26, 2022
Pooled analysis of epigenome-wide association studies of food consumption in KORA, TwinsUK and LLSFabian Hellbach, Lucy Sinke, Ricardo Costeira, et al.
BMC Neurology|October 29, 2011
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF featuresFranziska Hopfner, Barbara Schormair, Franziska Knauf, et al.
Neurogenetics|November 19, 2013
Rare variants in LRRK1 and Parkinson's diseaseEva C Schulte, Daniel C Ellwanger, Sybille Dihanich, et al.
EMBO Molecular Medicine|May 25, 2019
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolismJulia K Götzl, Matthias Brendel, Georg Werner, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|September 21, 2022
Relationship of serum beta-synuclein with blood biomarkers and brain atrophyPatrick Oeckl, Sarah Anderl-Straub, Adrian Danek, et al.
Clinical Epigenetics|April 29, 2025
Regulation of nc886 (vtRNA2-1) RNAs is associated with cardiometabolic risk factors and diseasesSonja Rajić, Thomas Delerue, Justiina Ronkainen, et al.
Health Policy (Amsterdam, Netherlands)|February 18, 2024
A comparison of social prescribing approaches across twelve high-income countriesGiada Scarpetti, Hannah Shadowen, Gemma A Williams, et al.
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