Search Results - Caroline Lekszas

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    Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion by Caroline Lekszas, Ombretta Foresti, Ishier Raote, Daniel Liedtke, Eva-Maria König, Indrajit Nanda, Barbara Vona, Peter De Coster, Rita Cauwels, Vivek Malhotra, Thomas Haaf

    Published in eLife (2020-02-01)
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    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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