![]() | Up a level |
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
Pottie, Lore ORCID: 0000-0001-5102-975X, Van Gool, Wouter, Vanhooydonck, Michiel
ORCID: 0000-0001-7350-9009, Hanisch, Franz-Georg, Goeminne, Geert, Rajkovic, Andreja
ORCID: 0000-0003-1062-0564, Coucke, Paul, Sips, Patrick
ORCID: 0000-0001-9241-5980 and Callewaert, Bert
ORCID: 0000-0002-9743-4205
(2021).
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
PLoS Genet., 17 (6).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7404