Ghent University Academic Bibliography

Mark

journalArticle
A1
open access

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Caroline Van Cauwenbergh (UGent) , Kristof Van Schil (UGent) , Robrecht Cannoodt (UGent) , Miriam Bauwens (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Wouter Steyaert (UGent) , Tom Sante (UGent) , Björn Menten (UGent) , Bart Leroy (UGent) , et al.

(2017) GENETICS IN MEDICINE. 19(4). p.457-466

Mark

Non-coding variation in disorders of sex development

Dorien Baetens (UGent) , Berenice Bilharinho de Mendonça, Hannah Verdin (UGent) , Martine Cools (UGent) and Elfride De Baere (UGent)

(2017) CLINICAL GENETICS. 91(2). p.163-172

Mark

SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management

Cindy Colson, Estelle Aubry, Maryse Cartigny, Amélie-Anne Rémy, Hélène Franquet, Xavier Leroy, Géraldine Kéchid, Christine Lefèvre, Rémi Besson, Martine Cools (UGent) , et al.

(2017) CLINICAL GENETICS. 92(1). p.99-103

Mark

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

Anja K Mayer, Caroline Van Cauwenbergh (UGent) , Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere (UGent) , Bernd Wissinger and Susanne Kohl

(2017) HUMAN MUTATION. 38(11). p.1579-1591

Mark

The 2017 International Classification of the Ehlers-Danlos Syndromes

Fransiska Malfait (UGent) , Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, et al.

(2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 175(1). p.8-26

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Chronic fatigue in Ehlers-Danlos syndrome-hypermobile type

Alan Hakim, Inge De Wandele (UGent) , Chris O'Callaghan, Alan Pocinki and Peter Rowe

(2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 175(1). p.175-180

Mark

Small patella syndrome : new clinical and molecular insights into a consistent phenotype

C Vanlerberghe, A-S Jourdain, A Dieux, A Toutain, Bert Callewaert (UGent) , S Dupuis-Girod, S Unger, M Wright, B Isidor, J Ghoumid, et al.

(2017) CLINICAL GENETICS. 92(6). p.676-678

Mark

journalArticle
A1
open access

Distinct genetic differentiation and species diversification within two marine nematodes with different habitat preference in Antarctic sediments

Freija Hauquier (UGent) , Frédérik Leliaert (UGent) , Annelien Rigaux (UGent) , Sofie Derycke (UGent) and Ann Vanreusel (UGent)

(2017) BMC EVOLUTIONARY BIOLOGY. 17.

Mark

misc

The International Consortium on the Ehlers-Danlos Syndromes

Lara Bloom, Peter Byers, Clair Francomano, Brad Tinkle and Fransiska Malfait (UGent)

(2017) AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 175(1). p.5-7

Mark

The novel homozygous KCNJ10 c.986T > C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs

Mario Van Poucke (UGent) , Kimberley Stee, Sofie Bhatti (UGent) , An Vanhaesebrouck, Leslie Bosseler (UGent) , Luc Peelman (UGent) and Luc Van Ham (UGent)

(2017) EUROPEAN JOURNAL OF HUMAN GENETICS. 25(2). p.222-226

Academic Bibliography

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Non-coding variation in disorders of sex development

SF1 and spleen development : new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

The 2017 International Classification of the Ehlers-Danlos Syndromes

Chronic fatigue in Ehlers-Danlos syndrome-hypermobile type

Small patella syndrome : new clinical and molecular insights into a consistent phenotype

Distinct genetic differentiation and species diversification within two marine nematodes with different habitat preference in Antarctic sediments

The International Consortium on the Ehlers-Danlos Syndromes

The novel homozygous KCNJ10 c.986T > C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs

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