Academic Bibliography

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Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics

Ivana Nedeljkovic, Elena Carnero-Montoro, Lies Lahousse (UGent) , Diana A. van der Plaat, Kim de Jong, Judith M. Vonk, Cleo C. van Diemen, Alen Faiz, Maarten van den Berge, Ma'en Obeidat, et al.

(2018) EUROPEAN JOURNAL OF HUMAN GENETICS. 26(5). p.709-722
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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
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- conference
- C3
FOXP1-related intellectual disability syndrome : a recognizable entity

Ilse Meerschaut (UGent) , J Pètre, N Revencu, NELE BOCKAERT, Ann Oostra (UGent) , Olivier Vanakker (UGent) , M Velinov, TJ de Ravel, D Mekahli, KK Vaux, et al.

(2016) In EUROPEAN JOURNAL OF HUMAN GENETICS 24 (E-suppl. 1). p.161-161
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- conference
- C3
Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse Meerschaut (UGent) , Shana De Coninck (UGent) , Wouter Steyaert (UGent) , S Garcia Minaur, JC Oosterwijk, R Igbokwe, M Suri, A Bayat, G Jones, CI Dali, et al.

(2016) In EUROPEAN JOURNAL OF HUMAN GENETICS 24 (E-suppl. 1). p.98-98
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A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever

Mario Van Poucke (UGent) , Valentine Martlé (UGent) , Leen Van Brantegem (UGent) , Richard Ducatelle (UGent) , Luc Van Ham (UGent) , Sofie Bhatti (UGent) and Luc Peelman (UGent)

(2016) EUROPEAN JOURNAL OF HUMAN GENETICS. 24(6). p.852-856
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Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues

Sandra Janssens (UGent) , Davit Chokoshvilli, Carmen Binst, Inge Mahieu, Lidewij Henneman, Anne De Paepe (UGent) and Pascal Borry

(2016) EUROPEAN JOURNAL OF HUMAN GENETICS. 24(4). p.506-512
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Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Mine Arslan-Kirchner, Eloisa Arbustini, Catherine Boileau, Philippe Charron, Anne H Child, Gwenaelle Collod-Beroud, Julie De Backer (UGent) , Anne De Paepe (UGent) , Anna Dierking, Laurence Faivre, et al.

(2016) EUROPEAN JOURNAL OF HUMAN GENETICS. 24(1). p.146-150
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- conference
- C3
Whole exome sequencing as a novel tool for the detection of modifier genes in Pseudoxanthoma elasticum

Eva De Vilder (UGent) , Filip Van Nieuwerburgh (UGent) , Dieter Deforce (UGent) , Ludovic Martin, Georges Lefthériotis, Paul Coucke (UGent) , Anne De Paepe (UGent) and Olivier Vanakker (UGent)

(2015) EUROPEAN JOURNAL OF HUMAN GENETICS. 23(suppl. 1). p.106-107
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- conference
- C3
Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondt (UGent) , Brecht Guillemyn (UGent) , Sofie Symoens (UGent) , Wendy Toussaint (UGent) , Leen Vanhoutte (UGent) , Riet De Rycke (UGent) , Paul Coucke (UGent) , Bart Lambrecht (UGent) , Patrick Segers (UGent) , Anne De Paepe (UGent) , et al.

(2015) EUROPEAN JOURNAL OF HUMAN GENETICS. 23(suppl. 1). p.110-110
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Redefining the MED13L syndrome

Abidemi Adegbola, Luciana Musante, Bert Callewaert (UGent) , Patricia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker-Minh, Cedric Le Caignec, Barbara Delle Chiaie, Olivier Vanakker (UGent) , et al.

(2015) EUROPEAN JOURNAL OF HUMAN GENETICS. 23(10). p.1308-1317

Academic Bibliography

Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics

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

FOXP1-related intellectual disability syndrome : a recognizable entity

Congenital contractural arachnodactyly : delineation of clinical criteria

A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues

Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Whole exome sequencing as a novel tool for the detection of modifier genes in Pseudoxanthoma elasticum

Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development

Redefining the MED13L syndrome

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