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2021
Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariette J. V., Van der Ven, Amelie, Thiele, Holger, Altmueller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K. and Lessel, Davor ORCID: 0000-0003-4496-244X (2021). ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. Neurogenetics, 22 (4). S. 263 - 270. NEW YORK: SPRINGER. ISSN 1364-6753
2016
Kohl, Stefan, Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Shril, Shirlee, Dworschak, Gabriel C., Van der Ven, Amelie, Sanna-Cherchi, Simone, Bauer, Stuart B., Lee, Richard S., Soliman, Neveen A., Kehinde, Elijah O., Reutter, Heiko M., Tasic, Velibor ORCID: 0000-0002-3377-1245 and Hildebrandt, Friedhelm (2016). Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract. Nephrol. Dial. Transplant., 31 (8). S. 1280 - 1284. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385