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Sylvie Gerber - Patents
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Sylvie Gerber patents Recent bibliographic sampling of Sylvie Gerber patents listed/published in the public domain by the USPTO (USPTO Patent Application #,Title): Method for diagnosing or predicting a non syndromic autosomal recessive optic atrophy, or a risk of a non syndromic autosomal recessive optic atrophy The present invention relates to a method for diagnosing ...
FDXR Mutations Cause Sensorial Neuropathies and Expand the ...
www.cell.com
Domange, Fanny Mochel, Olivier Sterkers, Sylvie Gerber, Patrick Nitschke, Christine Bole-Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Ben Aissa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, and Sandrine Marlin. Supplemental note: cases reports Family 1 Patient 1 is the last child of consanguineous parents originating from Tunisia (Fig 1). She has 4 older sisters from whom ...
ORIGINAL ARTICLE Compound heterozygosity for severe and ...
jmg.bmj.com
Sylvie Gerber,1 Martina G Ding,2 Xavier Gérard,1 Klaus Zwicker,3 Xavier Zanlonghi,4 Marlène Rio,5 Valérie Serre,6,7 Sylvain Hanein,1 Arnold Munnich,5 Agnès Rotig,7 Lucas Bianchi,7 Patrizia Amati-Bonneau,8 Orly Elpeleg,9 Josseline Kaplan,1 Ulrich Brandt,10,11 Jean-Michel Rozet1 ABSTRACT Background Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in ...
Business Profiles
Valérie SERRE | Paris Diderot University, Paris | UP7 ...
www.researchgate.net
Sylvie Gerber. Nicolas Chassaing [...] Jean-Michel Rozet. Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M ...
Books & Literature
Syndrome of partial aniridia, cerebellar ataxia, and ...
onlinelibrary.wiley.com
Sylvie Gerber, Kamil J. Alzayady, Lydie Burglen, Dominique Brémond-Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoit Funalot, Raphaël Calmon, Alexandra Durr, Vera Lucia Gil-da-Silva-Lopes, Maria Fernanda Ribeiro Bittar, Christophe Orssaud, Bénédicte Héron, Edward Ayoub, Patrick Berquin, Nadia Bahi-Buisson, Christine Bole ...
Ghent University Academic Bibliography
biblio.ugent.be
Lucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, Arturo Ramirez-Miranda, Jean-Yves Douet, Hannah Verdin (UGent) , Antoine Guilloux, ...
Submicroscopic deletions at 13q32.1 cause congenital ...
biblio.ugent.be
Fares-Taie, Lucas, Sylvie Gerber, Akihiko Tawara, Arturo Ramirez-Miranda, Jean-Yves Douet, Hannah Verdin, Antoine Guilloux, et al “Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.” American Journal of Human Genetics 96 (4): 631–639.
Related Documents
CiteSeerX — Myosin VIIA gene: heterogeneity of the ...
citeseerx.ist.psu.edu
BibTeX @MISC{Lévy97myosinviia, author = {Gallia Lévy and Fabienne Levi-acobas and Stéphane Blanchard and Sylvie Gerber and Dominique Larget-piet and Viviane Chenal and Xue-zhong Liu and Valerie Newton and Karen P. Steel and Steve D. M. Brown and Arnold Munnich and Josseline Kaplan and Christine Petit and Dominique Weil}, title = {Myosin VIIA gene: heterogeneity of the mutations …
Scientific Publications
Incomplete penetrance of biallelic ALDH1A3 mutations ...
www.sciencedirect.com
Author links open overlay panel Julie Plaisancié a b Dominique Brémond-Gignac c d e Bénédicte Demeer f Véronique Gaston a Alain Verloes g Lucas Fares-Taie h Sylvie Gerber h Jean-Michel Rozet h Patrick Calvas a b Nicolas Chassaing a b
Compound heterozygosity for severe and hypomorphic NDUFS2 ...
pubmed.ncbi.nlm.nih.gov
Sylvie Gerber 1 , Martina G Ding 2 , Xavier Gérard 1 , Klaus Zwicker 3 , Xavier Zanlonghi 4 , Marlène Rio 5 , Valérie Serre 6 7 , Sylvain Hanein 1 , Arnold Munnich 5 , Agnès Rotig 7 , Lucas Bianchi 7 , Patrizia Amati-Bonneau 8 , Orly Elpeleg 9 , Josseline Kaplan 1 , Ulrich Brandt , Jean-Michel Rozet 1
Publications
Submicroscopic Deletions at 13q32.1 Cause Congenital ...
core.ac.uk
Lucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, Arturo Ramirez-Miranda, Jean-Yves Douet, Hannah Verdin, Antoine Guilloux, Juan C Zenteno, Hiroyuki Kondo, Hugo Moisset, et al. To cite this version: Lucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, Arturo Ramirez-Miranda, Jean-Yves Douet, et al.. Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.. American Journal of Human …
Video & Audio
Sylvie Gerber on Vimeo
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Miscellaneous
Sylvie Gerber's research works | Paris Descartes ...
www.researchgate.net
Sylvie Gerber Josseline Kaplan Leber congenital amaurosis (LCA, MIM ) is the earliest and most severe form of all hereditary retinal dystrophies, responsible for congenital blindness.
2020 Meeting — The Genetics of Ocular Development (GoOD ...
www.goodsoc.org
Clémentine Angée, Brigitte Nedelec, Pierre David, Sylvie Gerber, Sophie Creuzet, Sylvain Crippa, Bruno Passet, Jean-Luc Vilotte, Nicolas Chassaing, Josseline Kaplan, Corinne Kostic, Patrick Calvas, Jean-Michel Rozet, Lucas FARES TAIE,. Laboratory genetics in ophthalmology (LGO), INSERM UMR Institute of genetic diseases, Imagine. Paris, France. 11:50 (8’+2’) A local source of ...
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