Ghent University Academic Bibliography

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Your filters: cql: parent exact "Belgian Society for Human Genetics, 17th Annual meeting, Abstracts"

Mark
- conference
- C3
Arterial tortuosity syndrome : 37 new families and literature review

Aude Beyens (UGent) , Juliette Albuisson, T Busa, N Canham, JM Chopin, M Dasouki, K Devriendt, H Dietz, Björn Fischer-Zirnsak, Alper Gezdirici, et al.

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- conference
- C3
Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondt (UGent) , Brecht Guillemyn (UGent) , Sofie Symoens (UGent) , Riet De Rycke (UGent) , Yoshi Ishikawa, Hans Peter Bachinger, Sophie Janssens (UGent) , Mathieu Bertrand (UGent) and Fransiska Malfait (UGent)

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- conference
- C3
RRM2 is an essential and druggable component of the FOXM1 driven replicative stress DNA damage response in neuroblastoma

Carolina de Carvalho Nunes (UGent) , Siebe Loontiens (UGent) , Pauline Depuydt (UGent) , Suzanne Vanhauwaert (UGent) , Bieke Decaesteker (UGent) , Bram De Wilde (UGent) , Katleen De Preter (UGent) , Geertrui Denecker (UGent) , Christophe Van Neste (UGent) , Kaat Durinck (UGent) , et al.

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- conference
- C3
CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells followed by neural differentiation : an optimized workflow

Eva Jacobs (UGent) , Sharrat Warrier, Eva D'haene (UGent) , Margot Van der Jeught (UGent) , Björn Heindryckx (UGent) , Björn Menten (UGent) and Sarah Vergult (UGent)

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- conference
- C3
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil (UGent) , Sarah Naessens (UGent) , Stijn Van De Sompele (UGent) , Marjolein Carron (UGent) , Alexander Aslanidis, Caroline Van Cauwenbergh (UGent) , Anne Kathrin Mayer, Mattias Van Heetvelde (UGent) , Miriam Bauwens (UGent) , Hannah Verdin (UGent) , et al.

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- 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.

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- conference
- C3
A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections

Marieke De Bruyne (UGent) , Delfien Bogaert (UGent) , Levi Hoste (UGent) , Mélanie Migaud, Jean-Christophe Goffard, Anne Puel, Elfride De Baere (UGent) , Filomeen Haerynck (UGent) and Melissa Dullaers (UGent)

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- conference
- C3
SOX11 acts as part of the MYCN-WEE1 regulatory protein complex implicated in neuroblastoma

Bieke Decaesteker (UGent) , Sara De Brouwer (UGent) , Fanny De Vloed (UGent) , Geertrui Denecker (UGent) , Suzanne Vanhauwaert (UGent) , Jolien De Wyn (UGent) , Genevieve Laureys (UGent) , Björn Menten (UGent) , Pauline Depuydt (UGent) , Jo Vandorpe, et al.

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- conference
- C3
GGCX-associated phenotypes : an overview in search of genotype-phenotype correlations

Eva De Vilder (UGent) , Jens Debacker (UGent) and Olivier Vanakker (UGent)

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
Mark
- conference
- C3
Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene

Basamat Almoallem Mohammed (UGent) , Kristof Van Schil (UGent) , Laila Jeddawi, Bart Leroy (UGent) , Frauke Coppieters (UGent) and Elfride De Baere (UGent)

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.

Academic Bibliography

Arterial tortuosity syndrome : 37 new families and literature review

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

RRM2 is an essential and druggable component of the FOXM1 driven replicative stress DNA damage response in neuroblastoma

CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells followed by neural differentiation : an optimized workflow

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Congenital contractural arachnodactyly : delineation of clinical criteria

A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections

SOX11 acts as part of the MYCN-WEE1 regulatory protein complex implicated in neuroblastoma

GGCX-associated phenotypes : an overview in search of genotype-phenotype correlations

Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene

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