Ghent University Academic Bibliography

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- Journal Article
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge (UGent) , Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2020) GENETICS IN MEDICINE.
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A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut (UGent) , Shana De Coninck (UGent) , Wouter Steyaert (UGent) , Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, et al.

(2020) GENETICS IN MEDICINE.
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- Conference Paper
- C3
Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge (UGent) , Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destree, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) Belgian Society for Human Genetics, 19th Annual meeting, Abstracts.
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- Journal Article
- A1
- open access
ACTB loss-of-function mutations result in a pleiotropic developmental disorder

Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert (UGent) , Jill Clayton-Smith, Cristina Hernando Davalillo, et al.

(2017) AMERICAN JOURNAL OF HUMAN GENETICS. 101(6). p.1021-1033
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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

Keiko Shimojima, Satoshi Narai, Masami Togawa, Tomotsune Doumoto, Noriko Sangu, Olivier Vanakker (UGent) , Anne De Paepe (UGent) , Matthew Edwards, John Whitehall, Sally Brescianini, et al.

(2016) EUROPEAN JOURNAL OF MEDICAL GENETICS. 59(10). p.502-506

Academic Bibliography

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

A clinical scoring system for congenital contractural arachnodactyly

Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

ACTB loss-of-function mutations result in a pleiotropic developmental disorder

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

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