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Ruxolitinib-treated polycythemia vera patients and their risk of secondary malignancies

2021 . Sekhri, Rohit | Sadjadian, Parvis | Becker, Tatjana | Kolatzki, Vera | Huenerbein, Karlo | Meixner, Raphael | Marchi, Hannah | Wallmann, Rudolf | Fuchs, Christiane | Griesshammer, Martin | Wille, Kai

Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant

2021 . Hanker, Britta | Gillessen-Kaesbach, Gabriele | Hüning, Irina | Lüdecke, Hermann-Josef | Wieczorek, Dagmar

Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia

2021 . Shalash, Ali | Rösler, Thomas W. | Salama, Mohamed | Pendziwiat, Manuela | Müller, Stefanie H. | Hopfner, Franziska | Höglinger, Günter | Kuhlenbaeumer, Gregor

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

2021 . Markus, Fenja | Kannengießer, Annika | Näder, Patricia | Atigbire, Paul | Scholten, Alexander | Vössing, Christine | Bültmann, Eva | Korenke, G. Christoph | Owczarek-Lipska, Marta | Neidhardt, John

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

Depressive Emotionality Moderates the Influence of the BDNF Val66Met Polymorphism on Executive Functions and on Unconscious Semantic Priming

2020 . Sanwald, Simon | Montag, Christian | Kiefer, Markus

Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia

2020 . Cheng, Fubo | Walter, Michael | Wassouf, Zinah | Hentrich, Thomas | Casadei, Nicolas | Schulze-Hentrich, Julia | Barbuti, Peter | Krueger, Rejko | Riess, Olaf | Grundmann-Hauser, Kathrin | Ott, Thomas

Disease-associated HCN4 V759I variant is not sufficient to impair cardiac pacemaking

2020 . Erlenhardt, Nadine | Kletke, Olaf | Wohlfarth, Franziska | Komadowski, Marlene A. | Clasen, Lukas | Makimoto, Hisaki | Rinné, Susanne | Kelm, Malte | Jungen, Christiane | Decher, Niels | Meyer, Christian | Klöcker, Nikolaj

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