المؤلفون: Vanbelleghem, Eva^{Aff1, Aff2}, Van Damme, Tim, Beyens, Aude^{Aff1, Aff2}, Symoens, Sofie^{Aff1, Aff2}, Claes, Kathleen^{Aff1, Aff2}, De Backer, Julie^{Aff1, Aff3}, Meerschaut, Ilse, Vanommeslaeghe, Floris, Delanghe, Sigurd E., van den Ende, Jenneke, Beyltjens, Tessi, Scimone, Eleanor R., Lindsay, Mark E.^{Aff8, Aff9}, Schimmenti, Lisa A., Hinze, Alicia M., Dunn, Emily, Gomez-Ospina, Natalia, Vandernoot, Isabelle, Delguste, Thomas, Coppens, Sandra, Cormier-Daire, Valérie, Tartaglia, Marco, Garavelli, Livia, Shieh, Joseph, Demir, Şenol, Arslan Ateş, Esra, Zenker, Martin, Rohanizadegan, Mersedeh, Rivera-Cruz, Greysha, Douzgou, Sofia, Lin, Angela E., Callewaert, Bert^{Aff1, Aff2, IDs41431024016641_cor33}

المصدر: European Journal of Human Genetics. 32(9):1086-1094

المؤلفون: Adamo, Christin S, Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R, Tufa, Sara F, Mörgelin, Matthias, Brinckmann, Jürgen, Sasaki, Takako, Niehoff, Anja, Dreiner, Maren, Pottie, Lore, Muiño-Mosquera, Laura, Gulec, Elif Yilmaz, Gezdirici, Alper, Braghetta, Paola, Bonaldo, Paolo, Wagener, Raimund, Paulsson, Mats, Bornaun, Helen, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Devine, Walter P, Gangaram, Balram, Tam, Allison, Balasubramanian, Meena, Ellard, Sian, Moore, Sandra, Symoens, Sofie, Shen, Joseph, Cole, Stacey, Schwarze, Ulrike, Holmes, Kathryn W, Hayflick, Susan J, Wiszniewski, Wojciech, Nampoothiri, Sheela, Davis, Elaine C, Sakai, Lynn Y, Sengle, Gerhard, Callewaert, Bert

المصدر: American journal of human genetics. 109(12)

مصطلحات موضوعية: Animals, Humans, Mice, Bone Diseases, Metabolic, Cutis Laxa, Collagen, Elastin, Extracellular Matrix Proteins, EFEMP2, EMILIN1, LOX, aortic aneurysm, arterial tortuosity, collagen, cutis laxa, elastic fiber, extracellular matrix, fracture, Rare Diseases, Pediatric, Congenital Structural Anomalies, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8mv0r3gx

المؤلفون: Beyens, Aude^Aff8, Pottie, Lore^{Aff9, Aff10}, Sips, Patrick^{Aff9, Aff10}, Callewaert, Bert^Aff11

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Halper, Jaroslava, editor^Aff7

المصدر: Progress in Heritable Soft Connective Tissue Diseases. 1348:273-309

المؤلفون: Beyens, Aude^Aff8, Pottie, Lore^{Aff9, Aff10}, Sips, Patrick^{Aff9, Aff10}, Callewaert, Bert^Aff11

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Halper, Jaroslava, editor^Aff7

المصدر: Progress in Heritable Soft Connective Tissue Diseases. 1348:C1-C1

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المؤلفون: 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.^{Aff10, Aff11}, Dasouki, Majed, De Backer, Julie^{Aff1, Aff13}, De Paepe, Anne, De Schepper, Sofie, De Silva, Deepthi^{Aff15, Aff16}, Devriendt, Koenraad, De Wandele, Inge, Deyle, David R.^{Aff10, Aff18, Aff19}, Dietz, Harry, Dupuis-Girod, Sophie, Fontenot, Eudice, Fischer-Zirnsak, Björn, Gezdirici, Alper, Ghoumid, Jamal, Giuliano, Fabienne, Baena, Neus, Haider, Mohammed Z., Hardin, Joshua S., Jeunemaitre, Xavier, Klee, Eric W.^{Aff8, Aff9, Aff18}, Kornak, Uwe, Landecho, Manuel F., Legrand, Anne, Loeys, Bart, Lyonnet, Stanislas, Michael, Helen, Moceri, Pamela, Mohammed, Shehla, Muiño-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^{Aff42, Aff43, Aff44}, Uysal, Fahrettin, Vanhomwegen, Marine, Van Laer, Lut, Van Maldergem, Lionel, Warner, David, Willaert, Andy, Collins II, Tom R., Taylor, Andrea, Davis, Elaine C., Zarate, Yuri, Callewaert, Bert^Aff1

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(8):1894-1895

المؤلفون: Adamo, Christin S., Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R., Tufa, Sara F., Morgelin, Matthias, Brinckmann, Jurgen, Sasaki, Takako, Niehoff, Anja, Dreiner, Maren, Pottie, Lore, Muino-Mosquera, Laura, Gulec, Elif Yilmaz, Gezdirici, Alper, Braghetta, Paola, Bonaldo, Paolo, Wagener, Raimund, Paulsson, Mats, Bornaun, Helen, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Devine, Walter P., Gangaram, Balram, Tam, Allison, Balasubramanian, Meena, Ellard, Sian, Moore, Sandra, Symoens, Sofie, Shen, Joseph, Cole, Stacey, Schwarze, Ulrike, Holmes, Kathryn W., Hayflick, Susan J., Wiszniewski, Wojciech, Nampoothiri, Sheela, Davis, Elaine C., Sakai, Lynn Y., Sengle, Gerhard, Callewaert, Bert

مصطلحات الفهرس: ddc:no, doc-type:article, publishedVersion

URL: https://kups.ub.uni-koeln.de/69736/
https://kups.ub.uni-koeln.de/69736
10.1016/j.ajhg.2022.10.010

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المؤلفون: Pottie, Lore, Adamo, Christin S., Beyens, Aude, Luetke, Steffen, Tapaneeyaphan, Piyanoot, De Clercq, Adelbert, Salmon, Phil L., De Rycke, Riet, Gezdirici, Alper, Gulec, Elif Yilmaz, Khan, Naz, Urquhart, Jill E., Newman, William G., Metcalfe, Kay, Efthymiou, Stephanie, Maroofian, Reza, Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Altweijri, Ikhlass, Alsaleh, Monerah, Abdullah, Sawsan Mohamed, Al-Owain, Mohammad, Hashem, Mais, Houlden, Henry, Alkuraya, Fowzan S., Sips, Patrick, Sengle, Gerhard, Callewaert, Bert

مصطلحات الفهرس: ddc:no, doc-type:article, publishedVersion

URL: https://kups.ub.uni-koeln.de/60246/
https://kups.ub.uni-koeln.de/60246
10.1016/j.ajhg.2021.04.016

المؤلفون: McKenzie, Fiona, Mina, Kym, Callewaert, Bert, Beyens, Aude, Dickinson, Jan E., Jevon, Gareth, Papadimitriou, John, Diness, Birgitte Rode, Steensberg, Jesper Norman, Ek, Jakob, Baynam, Gareth

المصدر: McKenzie , F , Mina , K , Callewaert , B , Beyens , A , Dickinson , J E , Jevon , G , Papadimitriou , J , Diness , B R , Steensberg , J N , Ek , J & Baynam , G 2021 , ' Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families ' , Clinical Genetics , vol. 100 , no. 2 , pp. 168-175 .

مصطلحات الفهرس: ARCL1 (autosomal recessive cutis laxa type 1), cutis laxa, LOX, Lysyl oxidase, article

URL: https://curis.ku.dk/portal/da/publications/severe-congenital-cutis-laxa(eb4b0b82-b9d7-4ac1-8a94-bcaeabb39284).html
https://doi.org/10.1111/cge.13969