Ghent University Academic Bibliography

Journal Article
A1
open access

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, et al.

(2023) MOLECULAR PSYCHIATRY. 28. p.668-697

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Journal Article
A2
open access

New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot

Kent W. Small, Stijn Van de Sompele (UGent) , Jessica Avetisjan, Nitin Udar, Steven Agemy, Elfride De Baere (UGent) and Fadi S. Shaya

(2023) JOURNAL OF VITREORETINAL DISEASES. 7(1). p.33-42

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Journal Article
A1
open access

Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset

Sara Capiau, Joél Smet (UGent) , Boel De Paepe (UGent) , Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore (UGent) , Hedwig Stepman (UGent) , Sara Seneca and Arnaud Vanlander (UGent)

(2022) CELLS. 11(3).

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Journal Article
A2
open access

The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

Leo C. Hahn, Michalis Georgiou, Hind Almushattat, Mary J. van Schooneveld, Emanuel R. de Carvalho, Nieneke L. Wesseling, Jacoline B. ten Brink, Ralph J. Florijn, Birgit I. Lissenberg-Witte, Ine Strubbe (UGent) , et al.

(2022) OPHTHALMOLOGY RETINA. 6(8). p.711-722

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Journal Article
A1
open access

Myostatin mutation causing double muscling could affect increased psoroptic mange sensitivity in dual purpose Belgian Blue cattle

R. Meyermans, S. Janssens, A. Coussé, W. Gorssen, X. Hubin, P. Mayeres, W. Veulemans, Edwin Claerebout (UGent) , C. Charlier and N. Buys

(2022) ANIMAL. 16(3).

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Journal Article
A1
open access

Inter-observer agreement for the histological diagnosis of invasive lobular breast carcinoma

Matthias Christgen, Leonie Donata Kandt, Wiebke Antonopoulos, Stephan Bartels, Mieke R. Van Bockstal, Martin Bredt, Maria Jose Brito, Henriette Christgen, Cecile Colpaert, Balint Cserni, et al.

(2022) JOURNAL OF PATHOLOGY CLINICAL RESEARCH. 8(2). p.191-205

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Journal Article
A1
open access

X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients

Leo C. Hahn, Mary J. van Schooneveld, Nieneke L. Wesseling, Ralph J. Florijn, Jacoline B. ten Brink, Birgit I. Lissenberg-Witte, Ine Strubbe (UGent) , Magda A. Meester-Smoor, Alberta A. Thiadens, Roselie M. Diederen, et al.

(2022) OPHTHALMOLOGY. 129(2). p.191-202

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Journal Article
open access

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Linda A. J. Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, Stefan Aretz, Isabel Spier, Eric Legius, Hilde Brems, Robin de Putter (UGent) , Kathleen B. M. Claes, Gareth Evans, et al.

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(12).

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Journal Article
A1
open access

Assessment of animal diseases caused by bacteria resistant to antimicrobials : poultry

Soren Saxmose Nielsen, Dominique Joseph Bicout, Paolo Calistri, Elisabetta Canali, Julian Ashley Drewe, Bruno Garin-Bastuji, Jose Luis Gonzales Rojas, Christian Gortazar Schmidt, Mette Herskin, Virginie Michel, et al.

(2021) EFSA JOURNAL. 19(12).

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Bamboo powder protects gnotobiotically-grown brine shrimp against AHPND-causing Vibrio parahaemolyticus strains by cessation of PirAB(VP) toxin secretion

Vikash Kumar, Kartik Baruah and Peter Bossier (UGent)

(2021) AQUACULTURE. 539.

Academic Bibliography

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

New noncoding base pair mutation at the identical locus as the original NCMD/MCDR1 in a Mexican family, suggesting a mutational hotspot

Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset

The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene

Myostatin mutation causing double muscling could affect increased psoroptic mange sensitivity in dual purpose Belgian Blue cattle

Inter-observer agreement for the histological diagnosis of invasive lobular breast carcinoma

X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Assessment of animal diseases caused by bacteria resistant to antimicrobials : poultry

Bamboo powder protects gnotobiotically-grown brine shrimp against AHPND-causing Vibrio parahaemolyticus strains by cessation of PirAB(VP) toxin secretion

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