检索结果 - Van Damme, Tim

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review 由 D'hondt, Sanne, Van Damme, Tim, Malfait, Fransiska

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The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism 由 Van Damme, Tim, Colman, Marlies, Syx, Delfien, Malfait, Fransiska

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

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Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay 由 Baert, Annelot, Depuydt, Julie, Van Maerken, Tom, Poppe, Bruce, Malfait, Fransiska, Van Damme, Tim, De Nobele, Sylvia, Perletti, Gianpaolo, De Leeneer, Kim, Claes, Kathleen B.M., Vral, Anne

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Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta 由 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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Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation 由 Baert, Annelot, Depuydt, Julie, Van Maerken, Tom, Poppe, Bruce, Malfait, Fransiska, Storm, Katrien, van den Ende, Jenneke, Van Damme, Tim, De Nobele, Sylvia, Perletti, Gianpaolo, De Leeneer, Kim, Claes, Kathleen B. M., Vral, Anne

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Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder 由 Malfait, Fransiska, Kariminejad, Ariana, Van Damme, Tim, Gauche, Caroline, Syx, Delfien, Merhi-Soussi, Faten, Gulberti, Sandrine, Symoens, Sofie, Vanhauwaert, Suzanne, Willaert, Andy, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Ebrahimiadib, Nazanin, Hausser, Ingrid, Huysseune, Ann, Fournel-Gigleux, Sylvie, De Paepe, Anne

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COMPREHENSIVE CLINICAL AND MOLECULAR ANALYSIS OF 12 FAMILIES WITH TYPE 1 RECESSIVE CUTIS LAXA 由 Callewaert, Bert, Su, Chi-Ting, Van Damme, Tim, Vlummens, Philip, Malfait, Fransiska, Vanakker, Olivier, Schulz, Bianca, Neal, Meghan Mac, Davis, Elaine C., Lee, Joseph G.H., Salhi, Aicha, Unger, Sheila, Heimdal, Ketil, De Almeida, Salome, Kornak, Uwe, Gaspar, Harald, Bresson, Jean-Luc, Prescott, Katrina, Gosendi, Maria E., Mansour, Sahar, Piérard, Gérald E., Madan-Khetarpal, Suneeta, Sciurba, Frank C., Symoens, Sofie, Coucke, Paul J, Van Maldergem, Lionel, Urban, Zsolt, De Paepe, Anne

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa 由 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 由 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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