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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (2019)
Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, De Crescenzo A, Kotzaeridou U, et al.
Conference contribution
Fruits of Genomic Match-making: De Novo Variants in PRR12 are Associated with a Spectrum of Eye and Neurodevelopmental Anomalies (2019)
Balci TB, Wang L, Lalani S, Heide S, Keren B, Mignot C, Morley G, et al.
Conference contribution
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly (2019)
Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, et al.
Conference contribution
Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features (2019)
Rees M, Fukuzawa A, Nikoopour R, Kho A, Qi J, Fernandez-Garcia M, Wraige E, et al.
Conference contribution
Imbalances in protein homeostasis caused by mutant desmin (2019)
Clemen C, Winter L, Unger A, Berwanger C, Spörrer M, Linke W, Schröder R
Conference contribution
Malignant cardiac phenotype after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous R349P desmin knock-in mice (2019)
Stoeckigt F, Eichhorn L, Beiert T, Knappe V, Radecke T, Steinmetz M, Berwanger C, et al.
Conference contribution
Impact of Eligibility Criteria on Clinical Outcomes of Firehawk and XIENCE Coronary Drug-Eluting Stent in an All-Comers Randomized Trial (2019)
Saito Y, Wijns W, Baumbach A, Xu B, Kelbaek H, Van Royen N, Zheng M, et al.
Conference contribution
Optimal Vessel Sizing for the Bioresorbable Scaffold Implantation and the Incidence of Scaffold Thrombosis: Insights From the COMPARE-ABSORB Trial (2019)
Chang CC, Onuma Y, Chevalier B, West N, Gori T, Barbato E, Tarantini G, et al.
Conference contribution
Bioresorbable Scaffold Versus Metallic Drug-Eluting Stent in Patients at High Risk of Restenosis (COMPARE-ABSORB trial): Very Late Device Thrombosis While on Extended DAPT (2019)
Van Geuns RJ, Chang CC, Chevalier B, Gori T, Barbato E, Tarantini G, Achenbach S, et al.
Conference contribution
Considerable international variation exists in blood pressure control and antihypertensive prescription patterns in chronic kidney disease (2019)
Alencar de Pinho N, Levin A, Fukagawa M, Hoy WE, Pecoits-Filho R, Reichel H, Robinson B, et al.
Journal article
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