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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Biallelic variants in YRDC cause a developmental disorder with progeroid features

Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family

2021 . Carrion-Castillo, Amaia | B. Estruch, Sara | Maassen, Ben | Franke, Barbara | Francks, Clyde | Fisher, Simon

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy

Rivaroxaban compared with low-dose aspirin in individuals with type 2 diabetes and high cardiovascular risk: a randomised trial to assess effects on endothelial function, platelet activation and vascular biomarkers

2021 . Pistrosch, Frank | Matschke, Jan B. | Schipp, Dorothea | Schipp, Bernhard | Henkel, Elena | Weigmann, Ingo | Sradnick, Jan | Bornstein, Stefan R. | Birkenfeld, Andreas L. | Hanefeld, Markolf

COVID-19-Patientinnen und -Patienten in Deutschland: Expositionsrisiken und assoziierte Faktoren für Hospitalisierungen und schwere Krankheitsverläufe

2021 . Koppe, Uwe | Wilking, Hendrik | Harder, Thomas | Haas, Walter | Rexroth, Ute | Hamouda, Osamah

Circulating bacterial signature is linked to metabolic disease and shifts with metabolic alleviation after bariatric surgery

2021 . Chakaroun, Rima | Massier, Lucas | Heintz-Buschart, Anna | Said, Nedal | Fallmann, Joerg | Crane, Alyce | Schütz, Tatjana | Dietrich, Arne | Blüher, Matthias | Stumvoll, Michael | Musat, Niculina | Kovacs, Peter

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions

2021 . Kehrer-Sawatzki, Hildegard | Cooper, David N.

Identification of biomarkers of brown adipose tissue aging highlights the role of dysfunctional energy and nucleotide metabolism pathways

2021 . Hauffe, Robert | Rath, Michaela | Schell, Mareike | Ritter, Katrin | Kappert, Kai | Deubel, Stefanie | Ott, Christiane | Jähnert, Markus | Jonas, Wenke | Schürmann, Annette | Kleinridders, André

Genotype imputation in case-only studies of gene-environment interaction: validity and power

2021 . Aleknonytė-Resch, Milda | Szymczak, Silke | Freitag-Wolf, Sandra | Dempfle, Astrid | Krawczak, Michael

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