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Journal Article
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
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
Adamo, Christin S. ORCID: 0000-0002-8560-6153, Zuk, Alexandra V. and Sengle, Gerhard
(2021).
The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis.
Exp. Dermatol., 30 (1).
S. 25 - 38.
HOBOKEN:
WILEY.
ISSN 1600-0625
Thesis Abstract
Adamo, Christin S. ORCID: 0000-0002-8560-6153
(2022).
Connective tissue pathways causative for cutis laxa.
Thesis Abstract, Universität zu Köln.