Ghent University Academic Bibliography

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Negative molecular diagnostics in non-syndromic hearing loss : what next?

Thomas Clabout, Laurence Maes, Frederic Acke (UGent) , Wim Wuyts, Kristof Van Schil, Paul Coucke (UGent) , Sandra Janssens (UGent) and Els De Leenheer (UGent)

(2023) GENES. 14(1).
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Hearing loss in stickler syndrome : an update

Frederic Acke (UGent) and Els De Leenheer (UGent)

(2022) GENES. 13(9).
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The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism

Tim Van Damme (UGent) , Marlies Colman (UGent) , Delfien Syx (UGent) and Fransiska Malfait (UGent)

(2022) GENES. 13(2).
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Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenens (UGent) , Sarah Vergult (UGent) , Björn Menten (UGent) , Annelies Dheedene (UGent) , R. Frank Kooy and Bert Callewaert (UGent)

(2022) GENES. 13(4).
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Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

Ilse Meerschaut (UGent) , Wouter Steyaert (UGent) , Thierry Bové (UGent) , Katrien Francois (UGent) , Thomas Martens (UGent) , Katya De Groote (UGent) , Hans De Wilde (UGent) , Laura Muiño Mosquera (UGent) , Joseph Panzer (UGent) , Kristof Vandekerckhove (UGent) , et al.

(2022) GENES. 13(7).
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The sex-specific splicing of doublesex in brine shrimp Artemia franciscana

Viet Dung Nguyen (UGent) , Olivier Christiaens (UGent) , Stephanie De Vos (UGent) , Guy Smagghe (UGent) and Peter Bossier (UGent)

(2022) GENES. 13(11).
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SLC25A12 missense variant in Nova Scotia Duck Tolling Retrievers affected by cerebellar degeneration-myositis complex (CDMC)

Matthias Christen, Stefan Rupp, Iris Van Soens (UGent) , Sofie Bhatti (UGent) , Kaspar Matiasek, Thilo von Klopmann, Vidhya Jagannathan, Indiana Madden, Kevin Batcher, Danika Bannasch, et al.

(2022) GENES. 13(7).
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Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations

Maxim Verlee (UGent) , Aude Beyens (UGent) , Alper Gezdirici, Elif Gulec, Lore Pottie (UGent) , Silke De Feyter (UGent) , Michiel Vanhooydonck (UGent) , Piyanoot Tapaneeyaphan (UGent) , Sofie Symoens (UGent) and Bert Callewaert (UGent)

(2021) GENES. 12(4).
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Nature and nurture : genotype-dependent differential responses of root architecture to agar and soil environments

Merijn Kerstens, Vera Hesen, Kavya Yalamanchili, Andrea Bimbo, Stephen Grigg, Davy Opdenacker (UGent) , Tom Beeckman (UGent) , Renze Heidstra and Viola Willemsen

(2021) GENES. 12(7).
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A reassessment of copy number variations in congenital heart defects : picturing the whole genome

Ilse Meerschaut (UGent) , Sarah Vergult (UGent) , Annelies Dheedene (UGent) , Björn Menten (UGent) , Katya De Groote (UGent) , Hans De Wilde (UGent) , Laura Muiño Mosquera (UGent) , Joseph Panzer (UGent) , Kristof Vandekerckhove (UGent) , Paul Coucke (UGent) , et al.

(2021) GENES. 12(7).

Academic Bibliography

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Hearing loss in stickler syndrome : an update

The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism

Expanding the phenotype of B3GALNT2-related disorders

Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

The sex-specific splicing of doublesex in brine shrimp Artemia franciscana

SLC25A12 missense variant in Nova Scotia Duck Tolling Retrievers affected by cerebellar degeneration-myositis complex (CDMC)

Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations

Nature and nurture : genotype-dependent differential responses of root architecture to agar and soil environments

A reassessment of copy number variations in congenital heart defects : picturing the whole genome

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