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  1. Alex V. Postma; Christina K. Rapp; Katrin Knoflach; Alexander E. Volk; Johannes R. Lemke; Maximilian Ackermann; Nicolas Regamey; Philipp Latzin; Lucas Celant; Samara M.A. Jansen; Harm J. Bogaard; Aho Ilgun; Mariëlle Alders; Karin Y. van Spaendonck-Zwarts; Danny Jonigk; Christoph Klein; Stefan Gräf; Christian Kubisch; Arjan C. Houweling; Matthias Griese

    Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

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    2023

    Published in: Genetics in Medicine Open

  2. Rapp Christina, K.; Postma, AlexV.; Knoflach, Katrin; Volk, AlexanderE.; Lemke, JohannesR.; Ackermann, Maximilian; Regamey, Nicolas; Latzin, Philipp; Celant, Lucas; Jansen, SamaraM.; Bogaard, HarmJ.; Ilgun, Aho; Alders, Mariëlle; van Spaendonck-Zwarts, KarinY.; Jonigk, Danny; Klein, Christoph; Gräf, Stephan; Kubisch, Christian; Houweling, ArjanC.; Griese, Matthias

    Biallelic variants in the calpain regulatory subunit, CAPNS1, cause pulmonary arterial hypertension

    Conference Proceedings
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    Georg Thieme Verlag, 2023

    Published in: Klinische Pädiatrie

  3. Stalman, Susanne E; Solanky, Nita; Ishida, Miho; Alemán-Charlet, Cristina; Abu-Amero, Sayeda; Alders, Marielle; Alvizi, Lucas; Baird, William; Demetriou, Charalambos; Henneman, Peter; James, Chela; Knegt, Lia C; Leon, Lydia J; Mannens, Marcel M A M; Mul, Adi N; Nibbering, Nicole A; Peskett, Emma; Rezwan, Faisal I; Ris-Stalpers, Carrie; van der Post, Joris A M; Kamp, Gerdine A; Plötz, Frans B; Wit, Jan M; Stanier, Philip; [...]

    Genetic Analyses in Small-for-Gestational-Age Newborns

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    The Endocrine Society, 2018

    Published in: The Journal of Clinical Endocrinology & Metabolism