Ghent University Academic Bibliography

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Vitamin D binding protein polymorphism and COVID-19

Marijn Speeckaert (UGent) , Marc De Buyzere (UGent) and Joris Delanghe (UGent)

(2021) JOURNAL OF MEDICAL VIROLOGY. 93(2). p.705-707

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Otological manifestations in branchiootorenal spectrum disorder : a systematic review and meta-analysis

A Chen, J Song, Frederic Acke (UGent) , L Mei, X Cai, Y Feng and C He

(2021) CLINICAL GENETICS.

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Further delineation of BCAP31-linked intellectual disability : description of 17 new families with LoF and missense variants

S Whalen, M Shaw, C Mignot, D Héron, SC Bastaraud, CC Walti, J Liebelt, F Elmslie, P Yap, J Hurst, et al.

(2021) EUROPEAN JOURNAL OF HUMAN GENETICS.

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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Aude Beyens (UGent) , Annekatrien Boel (UGent) , Sofie Symoens (UGent) and Bert Callewaert (UGent)

(2021) CLINICAL GENETICS. 99(1). p.53-66

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Prenatally detected copy number variants in a national cohort : a postnatal follow-up study

Joke Muys, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Anne De Leener, Marjan De Rademaeker, Julie Desir, et al.

(2020) PRENATAL DIAGNOSIS. 40(10). p.1272-1283

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Miscellaneous

'It’s in your genes' Exome sequencing enables precision diagnostics in proteinuric kidney diseases

Franz Schaefer (UGent)

(2020) CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. 15(1). p.10-12

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Journal Article
A1
open access

The many faces of heterogeneity in psychiatric diagnostics : a response to Allsopp et al.

Jasper Feyaerts (UGent)

(2020) PSYCHIATRY RESEARCH. 284.

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Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

Annekatrien Boel (UGent) , Joyce Burger, Marine Vanhomwegen (UGent) , Aude Beyens (UGent) , Marjolijn Renard (UGent) , Sander Barnhoorn, Christophe Casteleyn (UGent) , Dieter Reinhardt, Benedicte Descamps (UGent) , Christian Vanhove (UGent) , et al.

(2020) HUMAN MOLECULAR GENETICS. 29(9). p.1476-1488

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Time of peak nocturnal diuresis rate between men with secondary nocturnal polyuria versus nocturnal polyuria syndrome

Thomas F. Monaghan, Matthew R. Epstein, Donald L. Bliwise, Kyle P. Michelson, Zhan D. Wu, Jason M. Lazar, Karel Everaert (UGent) , Abdo E. Kabarriti, Arturo Holmes, Alan J. Wein, et al.

(2020) NEUROUROLOGY AND URODYNAMICS. 39(2). p.785-792

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Journal Article
A1
open access

Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum

Norbert Kiss, Luca Fésűs, Szabolcs Bozsányi, Flóra Szeri, Matthias Van Gils (UGent) , Viktória Szabó, Anikó Ilona Nagy, Bernadett Hidvégi, Róbert Szipőcs, Ludovic Martin, et al.

(2020) LASERS IN MEDICAL SCIENCE. 35(8). p.1821-1830

Academic Bibliography

Vitamin D binding protein polymorphism and COVID-19

Otological manifestations in branchiootorenal spectrum disorder : a systematic review and meta-analysis

Further delineation of BCAP31-linked intellectual disability : description of 17 new families with LoF and missense variants

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Prenatally detected copy number variants in a national cohort : a postnatal follow-up study

'It’s in your genes' Exome sequencing enables precision diagnostics in proteinuric kidney diseases

The many faces of heterogeneity in psychiatric diagnostics : a response to Allsopp et al.

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

Time of peak nocturnal diuresis rate between men with secondary nocturnal polyuria versus nocturnal polyuria syndrome

Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum

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