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Basic Research in Cardiology|March 9, 2022
Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patientsLuis Peter Haupt, Sabine Rebs, Wiebke Maurer, et al.
Circulation Research|January 25, 2021
Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in CardiomyocytesJonas Peper, Daniel Kownatzki-Danger, Gunnar Weninger, et al.
Human Genetics|May 25, 2011
A mutation screen in patients with Kabuki syndromeYun Li, Nina Bögershausen, Yasemin Alanay, et al.
American Journal of Human Genetics|February 17, 2015
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfectaLutz Garbes, Kyungho Kim, Angelika Rieß, et al.
Circulation|January 17, 2007
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac deathCharles Antzelevitch, Guido D Pollevick, Jonathan M Cordeiro, et al.
Nature Genetics|February 28, 2006
Mutations in different components of FGF signaling in LADD syndromeEdyta Rohmann, Han G Brunner, Hülya Kayserili, et al.
Human Genetics|June 10, 2020
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesisMythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín, et al.
Neurology. Genetics|July 20, 2019
HACE1 deficiency leads to structural and functional neurodevelopmental defectsVanja Nagy, Ronja Hollstein, Tsung-Pin Pai, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosisKatharina Keupp, Yun Li, Ibrahim Vargel, et al.
Human Genetics|March 1, 2015
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromesNuria C Bramswig, Hermann-Josef Lüdecke, Yasemin Alanay, et al.
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