Ghent University Academic Bibliography

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

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

(2022) Orphanet Journal of Rare Diseases.
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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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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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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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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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Myocardial disease and ventricular arrhythmia in Marfan syndrome : a prospective study

Laura Muiño Mosquera (UGent) , Hans De Wilde (UGent) , Daniel Devos (UGent) , Danilo Babin (UGent) , Luc Jordaens (UGent) , Anthony Demolder (UGent) , Katya De Groote (UGent) , Daniël De Wolf (UGent) and Julie De Backer (UGent)

(2020) ORPHANET JOURNAL OF RARE DISEASES. 15(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).
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European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Infrid MBH van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, et al.

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.
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Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases

Valérie Vanhoorne (UGent) , E Peeters, Inge Van Tongelen (UGent) , Koen Boussery (UGent) , Evelien Wynendaele (UGent) , Bart De Spiegeleer (UGent) , Jean Paul Remon (UGent) and Chris Vervaet (UGent)

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.

Academic Bibliography

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

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

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

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

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

Myocardial disease and ventricular arrhythmia in Marfan syndrome : a prospective study

Mowat-Wilson syndrome : growth charts

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

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases

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