Ghent University Academic Bibliography

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Your filters: cql: author="Freisinger, Peter" or (type any "bookEditor issueEditor" and editor="Freisinger, Peter")

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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.
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Tim Van Damme (UGent) , Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn (UGent) , Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J Lefeber, et al.

(2017) AMERICAN JOURNAL OF HUMAN GENETICS. 100(2). p.216-227
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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Uwe Ahting, Johannes A Mayr, Arnaud Vanlander (UGent) , Steven A Hardy, Saikat Santra, Christine Makowski, Charlotte L Alston, Franz A Zimmermann, Lucia Abela, Barbara Plecko, et al.

(2015) FRONTIERS IN GENETICS. 6.
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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Robert Kopajtich, Thomas J Nicholls, Joanna Rorbach, Metodi D Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander (UGent) , Daniele Ghezzi, Rosalba Carrozzo, Robert W Taylor, et al.

(2014) AMERICAN JOURNAL OF HUMAN GENETICS. 95(6). p.708-720

Academic Bibliography

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

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

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