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2022
Adamo, Christin S. 
ORCID: 0000-0002-8560-6153, 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 ORCID: 0000-0002-2432-9279, 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 ORCID: 0000-0001-6940-9240, Balasubramanian, Meena ORCID: 0000-0003-1488-3695, 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 and Callewaert, Bert
(2022).
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am. J. Hum. Genet., 109 (12).
S. 2230 - 2254.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2021
Pottie, Lore ORCID: 0000-0001-5102-975X, Adamo, Christin S. ORCID: 0000-0002-8560-6153, Beyens, Aude, Luetke, Steffen, Tapaneeyaphan, Piyanoot, De Clercq, Adelbert ORCID: 0000-0003-2670-1684, Salmon, Phil L., De Rycke, Riet, Gezdirici, Alper ORCID: 0000-0002-2432-9279, Gulec, Elif Yilmaz, Khan, Naz, Urquhart, Jill E., Newman, William G., Metcalfe, Kay, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, 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 ORCID: 0000-0001-9241-5980, Sengle, Gerhard and Callewaert, Bert ORCID: 0000-0002-9743-4205
(2021).
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am. J. Hum. Genet., 108 (6).
S. 1095 - 1115.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2018
Urwyler-Rosselet, Corinne, Tanghe, Giel ORCID: 0000-0001-5879-7428, Leurs, Kirsten, Gilbert, Barbara, De Rycke, Riet, De Bruyne, Michiel, Lippens, Saskia, Bartunkova, Sonia, De Groote, Philippe, Niessen, Carien, Haftek, Marek, Vandenabeele, Peter ORCID: 0000-0002-6669-8822 and Declercq, Wim
(2018).
Keratinocyte-Specific Ablation of RIPK4 Allows Epidermal Cornification but Impairs Skin Barrier Formation.
J. Invest. Dermatol., 138 (6).
S. 1268 - 1279.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1747