Ghent University Academic Bibliography

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Your filters: cql: author="Marcelis, Carlo" or (type exact bookEditor and editor="Marcelis, Carlo")

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- Conference Paper
- C3
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)

Maria del Rocio Pérez Baca (UGent) , Eva Jacobs, Lies Vantomme (UGent) , Mareike Bauer, Melissa Bellini, Claire Beneteau, Natasha Brown, David Coman, Laurenz De Cock (UGent) , Annelies Dheedene (UGent) , et al.

(2021) Online Research Day 2021, Abstracts.
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- Conference Paper
- C3
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)

Eva Jacobs, Sarah Vergult (UGent) , Maria Palomares Braro, Sixto Garcia-Minaur, S. Simmaro Fernando, T. Duelund Hjortshøj, M. Gérard, A. Molin, P. Villavicencio-Lorini, J. Köhlhase, et al.

(2019) Genomics of Rare Disease 2019, Abstracts.
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- Journal Article
- A1
- open access
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbane, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert (UGent) , Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, et al.

(2013) ORPHANET JOURNAL OF RARE DISEASES. 8.
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Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

Paulien A Terhal, Paula van Dommelen, Martine Le Merrer, Andreas Zankl, Marleen EH Simon, Sarah F Smithson, Carlo Marcelis, Bronwyn Kerr, Esther Kinning, Sahar Mansour, et al.

(2012) AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 160C(3). p.205-216
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Kristien Hoornaert (UGent) , Inge Vereecke (UGent) , Chantal Dewinter (UGent) , Thomas Rosenberg, Frits A Beemer, Juliaan Leroy (UGent) , Laila Bendix, Erik Björck, Maryse Bonduelle, Odile Boute, et al.

(2010) EUROPEAN JOURNAL OF HUMAN GENETICS. 18(8). p.872-880

Academic Bibliography

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

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