Výsledky vyhledávání - Guillemyn, Brecht

Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions Autor Rodríguez, Antonio, Guillemyn, Brecht, Coucke, Paul, Vaneechoutte, Mario

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Loss of TANGO1 Leads to Absence of Bone Mineralization Autor Guillemyn, Brecht, Nampoothiri, Sheela, Syx, Delfien, Malfait, Fransiska, Symoens, Sofie

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The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review Autor Colman, Marlies, Van Damme, Tim, Steichen-Gersdorf, Elisabeth, Laccone, Franco, Nampoothiri, Sheela, Syx, Delfien, Guillemyn, Brecht, Symoens, Sofie, Malfait, Fransiska

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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy Autor Bauwens, Miriam, Storch, Stephan, Weisschuh, Nicole, Ceuterick‐de Groote, Chantal, De Rycke, Riet, Guillemyn, Brecht, De Jaegere, Sarah, Coppieters, Frauke, Van Coster, Rudy, Leroy, Bart P., De Baere, Elfride

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Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta Autor Syx, Delfien, Ishikawa, Yoshihiro, Gebauer, Jan, Boudko, Sergei P., Guillemyn, Brecht, Van Damme, Tim, D’hondt, Sanne, Symoens, Sofie, Nampoothiri, Sheela, Gould, Douglas B., Baumann, Ulrich, Bächinger, Hans Peter, Malfait, Fransiska

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Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta Autor Tran, Thao T., Keller, Rachel B., Guillemyn, Brecht, Pepin, Melanie, Corteville, Jane E., Khatib, Samir, Fallah, Mohammad-Sadegh, Zeinali, Sirous, Malfait, Fransiska, Symoens, Sofie, Coucke, Paul, Witters, Peter, Levtchenko, Elena, Bagherian, Hamideh, Nickerson, Deborah A., Bamshad, Michael J., Chong, Jessica X., Byers, Peter H.

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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies Autor Gistelinck, Charlotte, Kwon, Ronald Y., Malfait, Fransiska, Symoens, Sofie, Harris, Matthew P., Henke, Katrin, Hawkins, Michael B., Fisher, Shannon, Sips, Patrick, Guillemyn, Brecht, Bek, Jan Willem, Vermassen, Petra, De Saffel, Hanna, Witten, Paul Eckhard, Weis, MaryAnn, De Paepe, Anne, Eyre, David R., Willaert, Andy, Coucke, Paul J.

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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility Autor Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A., Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P., De Baere, Elfride, Coppieters, Frauke

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa Autor Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K.C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa Autor Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Kai Ching Peter, Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.

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