未登录 Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa (vol 100, pg 216, 2017) 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, Bjorn; 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. 分享 收藏
A clinical scoring system for congenital contractural arachnodactyly Meerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M.; Breckpot, Jeroen; De Burca, Anna; Destree, Anne; Garcia-Minaur, Sixto; Green, Andrew J.; Hanna, Bernadette C.; Keymolen, Kathelijn; Koopmans, Marije; Lederer, Damien; Lees, Melissa; Longman, Cheryl; Lynch, Sally Ann; Male, Alison M.; McKenzie, Fiona; Migeotte, Isabelle; Mihci, Ercan; Nur, Banu; Petit, Florence; Piard, Juliette; Plasschaert, Frank S.; Rauch, Anita; Ribai, Pascale; Pacheco, Iratxe Salcedo; Stanzial, Franco; Stolte-Dijkstra, Irene; Valenzuela, Irene; Varghese, Vinod; Vasudevan, Pradeep C.; Wakeling, Emma; Wallgren-Pettersson, Carina; Coucke, Paul; De Paepe, Anne; De Wolf, Daniel; Symoens, Sofie; Callewaert, Bert 分享 收藏
Arterial tortuosity syndrome: 40 new families and literature review (vol 20, pg 1236, 2017) Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul J.; Cousin, Margot A.; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; Devriendt, Koenraad; De Wandele, Inge; Deyle, David R.; Dietz, Harry; Dupuis-Girod, Sophie; Fontenot, Eudice; Fischer-Zirnsak, Bjoern; Gezdirici, Alper; Ghoumid, Jamal; Giuliano, Fabienne; Baena, Neus; Haider, Mohammed Z.; Hardin, Joshua S.; Jeunemaitre, Xavier; Klee, Eric W.; Kornak, Uwe; Landecho, Manuel F.; Legrand, Anne; Loeys, Bart; Lyonnet, Stanislas; Michael, Helen; Moceri, Pamela; Mohammed, Shehla; Muino-Mosquera, Laura; Nampoothiri, Sheela; Pichler, Karin; Prescott, Katrina; Rajeb, Anna; Ramos-Arroyo, Maria; Rossi, Massimiliano; Salih, Mustafa; Seidahmed, Mohammed Z.; Schaefer, Elise; Steichen-Gersdorf, Elisabeth; Temel, Sehime; Uysal, Fahrettin; Vanhomwegen, Marine; Van Laer, Lut; Van Maldergem, Lionel; Warner, David; Willaert, Andy; Collins, Tom R., II; Taylor, Andrea; Davis, Elaine C.; Zarate, Yuri; Callewaert, Bert 分享 收藏
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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke ABCC6基因的致病变异与缺血性卒中风险增加相关 De Vilder, Eva Y. G.; Cardoen, Stefanie; Hosen, Mohammad J.; Le Saux, Olivier; De Zaeytijd, Julie; Leroy, Bart P.; De Reuck, Jacques; Coucke, Paul J.; De Paepe, Anne; Hemelsoet, Dimitri; Vanakker, Olivier M. 分享 收藏
BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment (vol 6, 30330, 2016) Boel, Annekatrien; Steyaert, Wouter; De Rocker, Nina; Menten, Bjorn; Callewaert, Bert; De Paepe, Anne; Coucke, Paul; Willaert, Andy 分享 收藏
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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies 斑马鱼I型胶原蛋白突变体忠实地概括了人类I型胶原病 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. 分享 收藏
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome Proposal for a Disease- and Gene-Specific Guideline Muino-Mosquera, Laura; Steijns, Felke; Audenaert, Tjorven; Meerschaut, Ilse; De Paepe, Anne; Steyaert, Wouter; Symoens, Sofie; Coucke, Paul; Callewaert, Bert; Renard, Marjolijn; De Backer, Julie 分享 收藏
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures Cassatella, Daniele; Howard, Sasha R.; Acierno, James S.; Xu, Cheng; Papadakis, Georgios E.; Santoni, Federico A.; Dwyer, Andrew A.; Santini, Sara; Sykiotis, Gerasimos P.; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; De Geyter, Christian; De Paepe, Anne; Dhillo, Waljit S.; Ferrara, Jean-Marc; Hauschild, Michael; Lang-Muritano, Mariarosaria; Lemke, Johannes R.; Fluck, Christa; Nemeth, Attila; Phan-Hug, Franziska; Pignatelli, Duarte; Popovic, Vera; Pekic, Sandra; Quinton, Richard; Szinnai, Gabor; I'Allemand, Dagmar; Konrad, Daniel; Sharif, Saba; Iyidir, Ozlem Turhan; Stevenson, Brian J.; Yang, Huanming; Dunkel, Leo; Pitteloud, Nelly 分享 收藏
Osteogenesis imperfecta Marini, Joan C.; Forlino, Antonella; Bachinger, Hans Peter; Bishop, Nick J.; Byers, Peter H.; De Paepe, Anne; Fassier, Francois; Fratzl-Zelman, Nadja; Kozloff, Kenneth M.; Krakow, Deborah; Montpetit, Kathleen; Semler, Oliver 分享 收藏
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa ATP6V1E1或ATP6V1A突变引起常染色体隐性皮肤松弛 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, Bjorn; 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. 分享 收藏
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type 扩大皮肤轴型ehlers-danlos综合征的临床和突变谱 Van Damme, Tim; Colige, Alain; Syx, Delfien; Giunta, Cecilia; Lindert, Uschi; Rohrbach, Marianne; Aryani, Omid; Alanay, Yasemin; Simsek-Kiper, Pelin Ozlem; Kroes, Hester Y.; Devriendt, Koen; Thiry, Marc; Symoens, Sofie; De Paepe, Anne; Malfait, Fransiska 分享 收藏
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome I型胶原蛋白端肽赖氨酰羟基化的丧失导致Bruck综合征斑马鱼模型的肌肉骨骼异常 Gistelinck, Charlotte; Witten, Paul Eckhard; Huysseune, Ann; Symoens, Sofie; Malfait, Fransiska; Larionova, Daria; Simoens, Pascal; Dierick, Manuel; Van Hoorebeke, Luc; De Paepe, Anne; Kwon, Ronald Y.; Weis, MaryAnn; Eyre, David R.; Willaert, Andy; Coucke, Paul J. 分享 收藏
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Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin Gistelinck, C.; Gioia, R.; Gagliardi, A.; Tonelli, F.; Marchese, L.; Bianchi, L.; Landi, C.; Bini, L.; Huysseune, A.; Witten, P. E.; Staes, A.; Gevaert, K.; De Rocker, N.; Menten, B.; Malfait, F.; Leikin, S.; Carra, S.; Tenni, R.; Rossi, A.; De Paepe, A.; Coucke, P.; Willaert, A.; Forlino, A. 分享 收藏
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia TAPT1的遗传缺陷会破坏纤毛生成并导致复杂的致死性骨软骨发育不良 Symoens, Sofie; Barnes, Aileen M.; Gistelinck, Charlotte; Malfait, Fransiska; Guillemyn, Brecht; Steyaert, Wouter; Syx, Delfien; D'hondt, Sanne; Biervliet, Martine; De Backer, Julie; Witten, Eckhard P.; Leikin, Sergey; Makareeva, Elena; Gillessen-Kaesbach, Gabriele; Huysseune, Ann; Vleminckx, Kris; Willaert, Andy; De Paepe, Anne; Marini, Joan C.; Coucke, Paul J. 分享 收藏
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