Ghent University Academic Bibliography

Show Sort by

Your filters: cql: parent exact "EUROPEAN JOURNAL OF HUMAN GENETICS"

Add to list
- Journal Article
- A1
- open access
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

Thierry Frebourg, Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita Magenheim, D. Gareth Evans, on behalf of European Reference Network GENTURI and Kathleen Claes (UGent)

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS.
Add to list
- Journal Article
- A1
- open access
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, on behalf of European Reference Network GENTURI, on behalf of PHTS Guideline Dev Grp and Kathleen Claes (UGent)

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS.
Add to list
- Journal Article
- open access
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations

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

(2020) European Journal of Human Genetics. p.1-140
Add to list
- Conference Paper
Electrophysiological characterization of a Brugada syndrome SCN5A Belgian founder mutation in induced pluripotent stem cell cardiomyocytes

E. Simons, A. Nijak, B. Vandendriessche, D. Van de Sande, E. Sieliwonczyk, Alain J Labro (UGent) , D. Snyders, D. Schepers, B. Loeys and M. Alaerts

(2020) EUROPEAN JOURNAL OF HUMAN GENETICS. 28(SUPPL 1). p.260-260
Add to list
- Conference Paper
- C3
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

Miriam Bauwens (UGent) , Sarah Naessens (UGent) , Caroline Van Cauwenbergh (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Irina Balikova (UGent) , Yves Sznajer, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.42-43
Add to list
SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

Xue-Yan Duan, Dong-chuan Guo, Ellen S Regalado, Hong Shen, Joseph S Coselli, Anthony L Estrera, Hazim J Safi, Michael J Bamshad, Deborah A Nickerson, Scott A LeMaire, et al.

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(7). p.1054-1060
Add to list
- Conference Paper
- C3
Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database

Laurentijn Tilleman (UGent) , Dieter Deforce (UGent) and Filip Van Nieuwerburgh (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.1029-1029
Add to list
- Conference Paper
- C3
Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

Stijn Van De Sompele (UGent) , Kristof Van Schil (UGent) , Caroline Van Cauwenbergh (UGent) , Toon Rosseel (UGent) , Sarah De Jaegere (UGent) , Thalia Van Laethem (UGent) , Irina Balikova (UGent) , Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.54-54
Add to list
- Journal Article
- A1
- open access
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat

Tom Schipper (UGent) , Mario Van Poucke (UGent) , Laurien Sonck (UGent) , Pascale Smets (UGent) , Richard Ducatelle (UGent) , Bart Broeckx (UGent) and Luc Peelman (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(11). p.1724-1730
Add to list
- Conference Paper
- C3
Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Greet Wieme (UGent) , Frederik Berrevoet (UGent) , Aude Vanlander (UGent) , Jo Van Dorpe (UGent) , Anne Hoorens (UGent) , Malaïka Van Der Linden (UGent) , Bram Parton (UGent) , Jurgen Van Limmen (UGent) , Ann De Bruyne (UGent) , Marc De Man (UGent) , et al.

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(suppl. 2). p.1593-1594

Academic Bibliography

Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations

Electrophysiological characterization of a Brugada syndrome SCN5A Belgian founder mutation in induced pluripotent stem cell cardiomyocytes

Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

Comparison of seven contemporary pharmacogenetic assays with the PharmGKB database

Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes

A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat

Detection of genome-wide copy number alterations in tumor tissue and cell-free DNA of pancreatic cancer patients

Contents

Support

Contact