Ghent University Academic Bibliography

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

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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.
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- Conference Paper
- 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.
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- Conference Paper
- C3
Second hit landscape in BRCA-associated breast cancer

Mattias Van Heetvelde (UGent) , Mieke Van Bockstal (UGent) , Trees Lepez (UGent) , Steve Lefever (UGent) , Leen Pieters (UGent) , Kathleen Lambein (UGent) , Marleen Praet (UGent) , Ivo Van Den Berghe, Frauke Coppieters (UGent) , Nadine Van Roy (UGent) , et al.

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
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- Conference Paper
- C3
Myhre syndrome : broadening the phenotypic spectrum

Ilse Meerschaut (UGent) , Sandra Janssens (UGent) , Wouter Steyaert (UGent) , Joseph Panzer (UGent) , Katrien Francois (UGent) , Frank Plasschaert (UGent) , Katrien Bonte (UGent) , Tine De Backer (UGent) , Paul Coucke (UGent) , Daniël De Wolf (UGent) , et al.

(2017) Belgian Society for Human Genetics, 17th Annual meeting, Abstracts.
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- Conference Paper
- C3
Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse Meerschaut (UGent) , Shana De Coninck, 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.
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- Conference Paper
- 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.
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- Conference Paper
- 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.
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- Conference Paper
- 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.
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- Conference Paper
- C3
Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah Delbaere (UGent) , Tim Van Damme (UGent) , Paul Coucke (UGent) , Sofie Symoens (UGent) , Andy Willaert (UGent) and Fransiska Malfait (UGent)

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

Academic Bibliography

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

Second hit landscape in BRCA-associated breast cancer

Myhre syndrome : broadening the phenotypic spectrum

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

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

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

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Arterial tortuosity syndrome : 37 new families and literature review

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