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Academic Bibliography

Search 200 years of publications by Ghent University researchers.

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1 – 5 of 5 publications

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Your filters: cql: keyword exact "ELN"

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- Conference Paper
- C3
- open access
Engaging researchers to document and share research activities at Ghent University

Laura Standaert (UGent) and Paula Oset Garcia (UGent)

(2024) 18th International Digital Curation Conference, Abstracts.
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- Book Chapter
- open access
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis

Aude Beyens (UGent) , Lore Pottie (UGent) , Patrick Sips (UGent) and Bert Callewaert (UGent)

(2021) Progress in Heritable Soft Connective Tissue Diseases. In Advances in Experimental Medicine and Biology (AEMB) 1348. p.273-309
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A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review

Mehmet B Duz, Emre Kirat, Paul Coucke (UGent) , Erkan Koparir, Alper Gezdirici, Anne De Paepe (UGent) , Bert Callewaert (UGent) and Mehmet Seven

(2017) CLINICAL DYSMORPHOLOGY. 26(3). p.142-147
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- Journal Article
- A1
- open access
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Smail Hadj-Rabia, Bert Callewaert (UGent) , Emmanuelle Bourrat, Marlies Kempers, Astrid S Plomp, Valerie Layet, Deborah Bartholdi, Marjolijn Renard (UGent) , Julie De Backer (UGent) , Fransiska Malfait (UGent) , et al.

(2013) ORPHANET JOURNAL OF RARE DISEASES. 8.
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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

Bert Callewaert (UGent) , Marjolijn Renard (UGent) , Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Hausser, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, et al.

(2011) HUMAN MUTATION. 32(4). p.445-455

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