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Journal article
Book chapter / Article in edited volumes
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Edited Volume
Conference contribution
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Abstract

Journal

Delineation of the clinical phenotype caused by de novo CLTC variants (2019) Sa MJN, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Conference contribution 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 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 A multi-objective optimization-based layer-by-layer blade-coating approach for organic solar cells: rational control of vertical stratification for high performance (2019) Sun R, Guo J, Wu Q, Zhang Z, Yang W, Guo J, Shi M, et al. Journal article Phenotype of the first patient harboring a de novo in-frame deletion in the LisH (LIS1 homology) domain of the WDR26 gene (2019) Steindl K, Kraemer D, Gogoll L, Zanoni P, Sticht H, Rauch A 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 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 Chronic kidney disease and valvular heart disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference (2019) Marwick TH, Amann KU, Bangalore S, Cavalcante JL, Charytan DM, Craig JC, Gill JS, et al. Journal article Leptin and Associated Mediators of Immunometabolic Signaling: Novel Molecular Outcome Measures for Neurostimulation to Treat Chronic Pain (2019) Kinfe TM, Buchfelder M, Chaudhry SR, Chakravarthy KV, Deer TR, Russo M, Georgius P, et al. Journal article, Review article Observations of the Ultra-compact X-Ray Binary 4U 1543-624 in Outburst with NICER, INTEGRAL, Swift, and ATCA (2019) Ludlam RM, Shishkovsky L, Bult PM, Miller JM, Zoghbi A, Strohmayer TE, Reynolds M, et al. Journal article