Ghent University Academic Bibliography

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

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- Journal Article
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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P. Bupp, Bert Callewaert (UGent) , et al.

(2021) GENETICS IN MEDICINE. 23(2). p.384-395
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- Miscellaneous
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

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.

(2020) AMERICAN JOURNAL OF HUMAN GENETICS. 107(2). p.374-374
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Association of alcohol consumption with allergic disease and asthma : a multi-centre Mendelian randomization analysis

Tea Skaaby, Tuomas O. Kilpelainen, Amy E. Taylor, Yuvaraj Mahendran, Andrew Wong, Tarunveer S. Ahluwalia, Lavinia Paternoster, Stella Trompet, David J. Stott, Claudia Flexeder, et al.

(2019) ADDICTION. 114(2). p.216-225
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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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Immune-array analysis in sporadic inclusion body myositis reveals HLA-DRB1 amino acid heterogeneity across the myositis spectrum

Simon Rothwell, Robert G Cooper, Ingrid E Lundberg, Peter K Gregersen, Michael G Hanna, Pedro M Machado, Megan K Herbert, Ger JM Pruijn, James B Lilleker, Mark Roberts, et al.

(2017) ARTHRITIS & RHEUMATOLOGY. 69(5). p.1090-1099
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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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Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

Simon Rothwell, Robert G Cooper, Ingrid E Lundberg, Frederick W Miller, Peter K Gregersen, John Bowes, Jiri Vencovsky, Katalin Danko, Vidya Limaye, Albert Selva-O'Callaghan, et al.

(2016) ANNALS OF THE RHEUMATIC DISEASES. 75(8). p.1558-1566
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- Journal Article
- A1
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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
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Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Louise V Wain, Germaine C Verwoert, Paul F O'Reilly, Gang Shi, Toby Johnson, Andrew D Johnson, Murielle Bochud, Kenneth M Rice, Peter Henneman, Albert V Smith, et al.

(2011) NATURE GENETICS. 43(10). p.1005-1011

Academic Bibliography

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Association of alcohol consumption with allergic disease and asthma : a multi-centre Mendelian randomization analysis

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

Immune-array analysis in sporadic inclusion body myositis reveals HLA-DRB1 amino acid heterogeneity across the myositis spectrum

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

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

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

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