Ghent University Academic Bibliography

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Insufficient evidence for a role of SERPINF1 in otosclerosis

Hanne Valgaeren, Manou Sommen, Matthias Beyens, Geert Vandeweyer, Isabelle Schrauwen, Anne Schepers, Isabelle Schatteman, Vedat Topsakal, Ingeborg Dhooge (UGent) , Henricus Kunst, et al.

(2019) MOLECULAR GENETICS AND GENOMICS. 294(4). p.1001-1006
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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Isabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, Manou Sommen, Umut Altunoglu, Mieke Wesdorp, Matthias Beyens, Erik Fransen, Abdul Nasir, Geert Vandeweyer, et al.

(2019) GENETICS IN MEDICINE. 21(5). p.1199-1208
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- Journal Article
- A1
- open access
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

Benson Ogunjimi (UGent) , Shen-Ying Zhang, Katrine B Sørensen, Kristian A Skipper, Madalina Carter-Timofte, Gaspard Kerner, Stefanie Luecke, Thaneas Prabakaran, Yujia Cai, Josephina Meester, et al.

(2017) JOURNAL OF CLINICAL INVESTIGATION. 127(9). p.3543-3556
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DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer (UGent) , Sandra Janssens (UGent) , Kathleen Claes (UGent) , et al.

(2016) HUMAN MUTATION. 37(8). p.812-819
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- Journal Article
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Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia

Nikhita Ajit Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, CHRISTINE VAN HEMELRIJK (UGent) , Dorien Schepers, Geert Vandeweyer, Alexander Hoischen, Jeroen R Huyghe, Ann Raes (UGent) , et al.

(2016) AMERICAN JOURNAL OF HUMAN GENETICS. 99(1). p.174-187
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Nikhita Ajit Bolar, Arnaud Vanlander (UGent) , Claudia Wilbrecht, Nathalie Van der Aa, Joél Smet (UGent) , Boel De Paepe (UGent) , Geert Vandeweyer, Frank Kooy, François Eyskens, Elien De Latter (UGent) , et al.

(2013) HUMAN MOLECULAR GENETICS. 22(13). p.2590-2602
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, Jenneke van den Ende, Edwin Reyniers, Marco Fichera, Corrado Romano, BARBARA DELLE CHIAIE (UGent) , Geert Mortier (UGent) , Björn Menten (UGent) , et al.

(2009) EUROPEAN JOURNAL OF MEDICAL GENETICS. 52(2-3). p.94-100

Academic Bibliography

Insufficient evidence for a role of SERPINF1 in otosclerosis

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

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