Ghent University Academic Bibliography

Journal Article
A1
open access

European standard clinical practice : key issues for the medical care of individuals with familial leukemia

Alisa Förster, Claudia Davenport, Nicolas Duployez, Miriam Erlacher, Alina Ferster, Jude Fitzgibbon, Gudrun Göhring, Henrik Hasle, Marjolijn C. Jongmans, Alexandra Kolenova, et al.

(2023) EUROPEAN JOURNAL OF MEDICAL GENETICS. 66(4).

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Journal Article
A1
open access

HTAD patient pathway : strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) : a statement from the HTAD working group of VASCERN

Maryanne Caruana, Marieke J. Baars, Evy Bashiardes, Kalman Benke, Erik Björck, Andrei Codreanu, Elena de Moya Rubio, Julia Dumfarth, Arturo Evangelista, Maarten Groenink, et al.

(2023) EUROPEAN JOURNAL OF MEDICAL GENETICS. 66(1).

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Marked hypotonia : an additional feature of ANO3-related movement disorder

Patrick Santens (UGent) , Arnout Bruggeman (UGent) , Nika Schuermans (UGent) , Hannah Verdin (UGent) and Bart Dermaut (UGent)

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

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Journal Article
A1
open access

Arrhythmia and impaired myocardial function in heritable thoracic aortic disease : an international retrospective cohort study

Anthony Demolder (UGent) , Lisa Bianco, Maryanne Caruana, Elena Cervi, Arturo Evangelista, Guillaume Jondeau, Lisa Lauren Buttigieg, Ángela López-Sainz, Elena Montañés Delmás, Alessandro Pini, et al.

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(6).

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Journal Article
A1
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 Claes (UGent) , Gareth Evans, et al.

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

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Journal Article
A1
open access

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Elke de Boer, Burcu Yaldiz, Anne-Sophie Denomme-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert (UGent) , Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, et al.

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(1).

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Journal Article
A1
open access

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

Ingrid M.B.H. van de Laar, Annette F. Baas, Julie De Backer (UGent) , Jan D. Blankenstein, Eelco Dulfer, Apollonia T.J.M. Helderman-van den Enden, Arjan C. Houweling, Marlies JE. Kempers, Bart Loeys, Fransiska Malfait (UGent) , et al.

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(9).

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Somatic mosaics in hereditary tumor predisposition syndromes

Verena Steinke-Lange, Robin de Putter (UGent) , Elke Holinski-Feder and Kathleen Claes (UGent)

(2021) EUROPEAN JOURNAL OF MEDICAL GENETICS. 64(12).

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Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe

David Humberto Marmolejo, Mark Yu Zheng Wong, Svetlana Bajalica-Lagercrantz, Marc Tischkowitz, Judith Balmaña, Attila Balázs Patócs, Pierre Chappuis, Chrystelle Colas, Maurizio Genuardi, Maria Haanpää, et al.

(2021) EUROPEAN JOURNAL OF MEDICAL GENETICS. 64(12).

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Journal Article
A1
open access

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Elise Pozza, Hannah Verdin (UGent) , Hilde Deconinck, Annelies Dheedene (UGent) , Björn Menten (UGent) , Elfride De Baere (UGent) and Irina Balikova (UGent)

(2020) EUROPEAN JOURNAL OF MEDICAL GENETICS. 63(5).

Academic Bibliography

European standard clinical practice : key issues for the medical care of individuals with familial leukemia

HTAD patient pathway : strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) : a statement from the HTAD working group of VASCERN

Marked hypotonia : an additional feature of ANO3-related movement disorder

Arrhythmia and impaired myocardial function in heritable thoracic aortic disease : an international retrospective cohort study

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

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)

Somatic mosaics in hereditary tumor predisposition syndromes

Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

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