Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome von Coucke, Paul J, Willaert, Andy, Wessels, Marja W, Callewaert, Bert, Zoppi, Nicoletta, De Backer, Julie, Fox, Joyce E, Mancini, Grazia M S, Kambouris, Marios, Gardella, Rita, Facchetti, Fabio, Willems, Patrick J, Forsyth, Ramses, Dietz, Harry C, Barlati, Sergio, Colombi, Marina, Loeys, Bart, De Paepe, Anne

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Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome von Ali, R.H., Shah, K., Nasir, A., Steyaert, W., Coucke, P.J., Ahmad, W.

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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis von Vandesompele, Jo, Verschueren, Kristin, Savarirayan, Ravi, Costa, Teresa, Huylebroeck, Danny, Mortier, Geert R, Willaert, Andy, Preobrazhenska, Olena, Janssens, Katrien, Vermeulen, Stefan J T, Naeyaert, Jean-Marie, Hul, Wim Van, Coucke, Paul J, Paepe, Anne De, Menten, Bjorn, Hellemans, Jan, Debeer, Philippe, Verdonk, Peter C M, Vanhoenacker, Filip, Speleman, Frank, Roy, Nadine Van

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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients von Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul C M, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle O J, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R

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Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips von Hellemans, Jan, Coucke, Paul J., Giedion, Andres, Paepe, Anne De, Kramer, Peter, Beemer, Frits, Mortier, Geert R.

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Mutations in the KCNQ4 Gene Are Responsible for Autosomal Dominant Deafness in Four DFNA2 Families von Coucke, Paul J., Van Hauwe, Peter, Kelley, Philip M., Kunst, Henricus, Schatteman, Isabelle, Van Velzen, Désirée, Meyers, Johan, Ensink, Robbert J., Verstreken, Margriet, Declau, Frank, Marres, Henri, Kastury, Kumar, Bhasin, Shalender, McGuirt, Wyman T., Smith, Richard J. H., Cremers, Cor W.R.J., Van de Heyning, Paul, Willems, Patrick J., Smith, Shelley D., Van Camp, Guy

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Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 von Coucke, P J, Wessels, M W, Van Acker, P, Gardella, R, Barlati, S, Willems, P J, Colombi, M, De Paepe, A

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Three new families with arterial tortuosity syndrome von Wessels, Marja W., Catsman-Berrevoets, Coriene E., Mancini, Grazia M.S., Breuning, Martijn H., Hoogeboom, Jeanette J.M., Stroink, Hans, Frohn-Mulder, Ingrid, Coucke, Paul J., Paepe, Anne De, Niermeijer, Martinus F., Willems, Patrick J.

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Missense Mutations in LRP5 Are Not a Common Cause of Idiopathic Osteoporosis in Adult Men von Crabbe, Patricia, Balemans, Wendy, Willaert, Andy, Van Pottelbergh, Inge, Cleiren, Erna, Coucke, Paul J, Ai, Minrong, Goemaere, Stefan, Van Hul, Wim, De Paepe, Anne, Kaufman, Jean‐Marc

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Angioid streaks beyond pseudoxanthoma elasticum von DE ZAEYTIJD, J, VANAKKER, OM, COUCKE, PJ, DE PAEPE, A, LEROY, BP

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A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment von Van Camp, Guy, Coucke, Paul J., Akita, Jiro, Fransen, Erik, Abe, Satoko, De Leenheer, Els M.R., Huygen, Patrick L.M., Cremers, Cor W.R.J., Usami, Shin-Ichi

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Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome von Coucke, P J, Van Hauwe, P, Everett, L A, Demirhan, O, Kabakkaya, Y, Dietrich, N L, Smith, R J H, Coyle, E, Reardon, W, Trembath, R, Willems, P J, Green, E D, Van Camp, G

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Longitudinal and Cross-Sectional Phenotype Analysis in a New, Large Dutch DFNA2/KCNQ4 Family von De Leenheer, Els M. R., Huygen, Patrick L. M., Coucke, Paul J., Admiraal, Ronald J. C., Van Camp, Guy, Cremers, Cor W. R. J.

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Deafness linked to DFNA2: one locus but how many genes? von Camp, Guy Van, Hauwe, Peter Van, Coucke, Paul J, Declau, Frank, Kunst, Henricus, Ensink, Robbert J, Marres, Henri A, Cremers, Cor W.R.J, Djelantik, Bulantrisna, Smith, Shelley D, Kelley, Phil, Heyning, Paul H. Van de

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Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene von KASTURY, K, TAYLOR, W. E, SHEN, R, ARVER, S, GUTIERREZ, M, FISHER, C. E, COUCKE, P. J, VAN HAUWE, P, VAN CAMP, G, BHASIN, S

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Chromosomal Mapping of Two Members of the Human Dynein Gene Family to Chromosome Regions 7p15 and 11q13 near the Deafness Loci DFNA 5 and DFNA 11 von Kastury, Kumar, Taylor, Wayne E., Gutierrez, Matthew, Ramirez, Luz, Coucke, Paul J., Van Hauwe, Peter, Van Camp, Guy, Bhasin, Shalender

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Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene von Kastury, K, Taylor, WE, Shen, RQ, Arver, S, Gutierrez, M, Fisher, CE, Coucke, PJ, VanHauwe, P, VanCamp, G, Bhasin, S

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Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region von Van Hauwe, Peter, Coucke, Paul J., Ensink, Robbert J., Huygen, Patrick, Cremers, Cor W.R.J., Van Camp, Guy

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 von Dietz, Harry C, Loeys, Bart L, Chen, Junji, Neptune, Enid R, Judge, Daniel P, Podowski, Megan, Holm, Tammy, Meyers, Jennifer, Leitch, Carmen C, Katsanis, Nicholas, Sharifi, Neda, Xu, F Lauren, Myers, Loretha A, Spevak, Philip J, Cameron, Duke E, Backer, Julie De, Hellemans, Jan, Chen, Yan, Davis, Elaine C, Webb, Catherine L, Kress, Wolfram, Coucke, Paul, Rifkin, Daniel B, De Paepe, Anne M

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The impact of CBCT-head tilting on 3D condylar segmentation reproducibility von El Bachaoui, Samy, Verhelst, Pieter-Jan, de Faria Vasconcelos, Karla, Shaheen, Eman, Coucke, Wim, Swennen, Gwen, Jacobs, Reinhilde, Politis, Constantinus

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