Ghent University Academic Bibliography

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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, [missing] Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases, Pieter Vermeersch, Katrien Devreese (UGent) , Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, et al.

(2021) Orphanet Journal of Rare Diseases.
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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.
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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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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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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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Research activity and capability in the European reference network MetabERN

Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen, Maurizio Scarpa, the MetabERN collaboration group and Rudy Van Coster (UGent)

(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.
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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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The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

Marlies Colman (UGent) , Tim Van Damme (UGent) , Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx (UGent) , Brecht Guillemyn (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?

Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, Manuel Schiff, Tobias B Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B Catarino, Daria Diodato, et al.

(2018) ORPHANET JOURNAL OF RARE DISEASES. 13.

Academic Bibliography

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

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

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

Mowat-Wilson syndrome : growth charts

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

Research activity and capability in the European reference network MetabERN

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

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

The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?

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