Ghent University Academic Bibliography

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Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, et al.

(2023) ORPHANET JOURNAL OF RARE DISEASES. 18(1).
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Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , Patrick Verloo (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).
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Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study

Saku Pelttari, Suvi Vaaramaki, Olivier Vanakker (UGent) , Shana Verschuere (UGent) , Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Porsti and I Nevalainen, Pasi

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).
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Genetic counseling in the context of Bangladesh : current scenario, challenges, and a framework for genetic service implementation

Mohammad Jakir Hosen, Saeed Anwar, Jarin Taslem Mourosi, Sourav Chakraborty, Md. Faruque Miah and Olivier Vanakker (UGent)

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).
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The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

Graeme C. Black, [missing] ERN-EYE study group, Panagiotis Sergouniotis, Andrea Sodi, Bart Leroy (UGent) , Caroline Van Cauwenbergh (UGent) , Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, et al.

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).
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Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume B. D'Augeres, Petrus J. de Vries, et al.

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).
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Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

Penelope J. Ireland, Ravi Savarirayan, Tash Pocovi, Tracy Tate, Marie Coussens (UGent) , Louise Tofts, Craig Munns and Verity Pacey

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).
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Belgian rare diseases plan in clinical pathology : identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Nathalie M. Vandevelde, Pieter Vermeersch, Katrien Devreese (UGent) , Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy (UGent) , et al.

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).
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Mowat-Wilson syndrome : growth charts

Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, et al.

(2020) ORPHANET JOURNAL OF RARE DISEASES. 15(1).
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Late-onset Pompe disease (LOPD) in Belgium : clinical characteristics and outcome measures

P Vanherpe, S Fieuws, A D'Hondt, C Bleyenheuft, P Demaerel, Jan De Bleecker (UGent) , P Van den Bergh, J Baets, G Remiche, K Verhoeven, et al.

(2020) ORPHANET JOURNAL OF RARE DISEASES. 15(1).

Academic Bibliography

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study

Genetic counseling in the context of Bangladesh : current scenario, challenges, and a framework for genetic service implementation

The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

Belgian rare diseases plan in clinical pathology : identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Mowat-Wilson syndrome : growth charts

Late-onset Pompe disease (LOPD) in Belgium : clinical characteristics and outcome measures

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