Search Results - Felix Boschann

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    Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy by Svea Horn, Svea Horn, Magdalena Danyel, Magdalena Danyel, Nina Erdmann, Nina Erdmann, Felix Boschann, Felix Boschann, Cecilia Gunnarsson, Cecilia Gunnarsson, Cecilia Gunnarsson, Saskia Biskup, Jerome Juengling, Cornelia Potratz, Cornelia Potratz, Christine Prager, Christine Prager, Angela M. Kaindl, Angela M. Kaindl, Angela M. Kaindl

    Published in Frontiers in Neurology (2023-01-01)
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  2. 2

    Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome by Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke

    Published in Human Genomics (2024-03-01)
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  3. 3

    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies by Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

    Published in npj Genomic Medicine (2024-03-01)
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