Ghent University Academic Bibliography

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

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- Miscellaneous
- open access
ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

Evi Duthoo (UGent) , Elien Beyls (UGent) , Lynn Backers (UGent) , Thorkell Gudjónsson, Peiquan Huang, Leander Jonckheere (UGent) , Sebastian Riemann (UGent) , Bram Parton (UGent) , Likun Du, Veronique Debacker (UGent) , et al.

(2024) MEDRXIV.
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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

Tibbe Dhooge, Delfien Syx (UGent) , Trinh Hermanns-Lê, Ingrid Hausser, Geert Mortier, Jonathan Zonana, Sofie Symoens (UGent) , Peter H. Byers and Fransiska Malfait (UGent)

(2021) GENETICS IN MEDICINE. 23(12). p.2378-2385
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- Journal Article
- A1
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
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- Journal Article
- A2
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Een patiënt met dense botten

Jesper Dierickx, Geert Mortier and Filip Vanhoenacker (UGent)

(2019) ORTHO-RHEUMATO. 17(5). p.34-40
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Une patiente avec des os denses

Jesper Dierickx, Geert Mortier and Filip Vanhoenacker (UGent)

(2019) ORTHO-RHUMATO. 17(5). p.34-40
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Camurati-Engelmann disease

Wim Van Hul, Eveline Boudin, Filip Vanhoenacker (UGent) and Geert Mortier

(2019) CALCIFIED TISSUE INTERNATIONAL. 104(5). p.554-560
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- Journal Article
- A1
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Diagnosing enterovirus meningitis via blood transcriptomics : an alternative for lumbar puncture?

Esther Bartholomeus, Nicolas De Neuter, Annelies Lemay, Luc Pattyn, David Tuerlinckx, David Weynants, Koen Van Lede, Gerlant van Berlaer, Dominique Bulckaert, Tine Boiy, et al.

(2019) JOURNAL OF TRANSLATIONAL MEDICINE. 17(1).
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- Journal Article
- A2
- open access
Een zeldzame oorzaak van flexiebeperking van de gewrichten en vormafwijkingen van de wervels

Stijn Marcelis, Geert Mortier and Filip Vanhoenacker (UGent)

(2018) ORTHO-RHEUMATO. 16(6). p.43-46
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Une cause rare de limitation de la flexion des articulations et de déformation des vertèbres

Stijn Marcelis, Geert Mortier and Filip Vanhoenacker (UGent)

(2018) ORTHO-RHUMATO. 16(6). p.43-46
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- Miscellaneous
- open access
Marked hypoplasia of the distal phalanges in Ellis-Van Creveld syndrome

Stijn Marcelis, Geert Mortier and Filip Vanhoenacker (UGent)

(2018) JOURNAL OF THE BELGIAN SOCIETY OF RADIOLOGY. 102(1).

Academic Bibliography

ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Een patiënt met dense botten

Une patiente avec des os denses

Camurati-Engelmann disease

Diagnosing enterovirus meningitis via blood transcriptomics : an alternative for lumbar puncture?

Een zeldzame oorzaak van flexiebeperking van de gewrichten en vormafwijkingen van de wervels

Une cause rare de limitation de la flexion des articulations et de déformation des vertèbres

Marked hypoplasia of the distal phalanges in Ellis-Van Creveld syndrome

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