Retinitis Punctata Albescens and RLBP1-Allied Phenotypes
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Published in Ophthalmology science (Online) (01.09.2021)
Published in Ophthalmology science (Online) (01.09.2021)
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Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia
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Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
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Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy
Bocquet, Béatrice, El Alami Trebki, Hicham, Roux, Anne Françoise, Labesse, Gilles, Brabet, Philippe, Arndt, Carl, Zanlonghi, Xavier, Defoort-Dhellemmes, Sabine, Hamroun, Dalil, Boulicot-Séguin, Céline, Lequeux, Léopoldine, Picot, Marie Christine, Huguet, Hélèna, Audo, Isabelle, Dhaenens, Claire Marie, Kalatzis, Vasiliki, Meunier, Isabelle
Published in Ophthalmology science (Online) (01.09.2021)
Published in Ophthalmology science (Online) (01.09.2021)
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Journal Article
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia: Expanding the Clinical Spectrum of STRA6 Mutations
Chassaing, Nicolas, Golzio, Christelle, Odent, Sylvie, Lequeux, Léopoldine, Vigouroux, Adeline, Martinovic-Bouriel, Jelena, Tiziano, Francesco Danilo, Masini, Lucia, Piro, Francesca, Maragliano, Giovanna, Delezoide, Anne-Lise, Attié-Bitach, Tania, Manouvrier-Hanu, Sylvie, Etchevers, Heather C., Calvas, Patrick
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
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OTX2 mutations contribute to the otocephaly-dysgnathia complex
Chassaing, Nicolas, Sorrentino, Susanna, Davis, Erica E, Martin-Coignard, Dominique, Iacovelli, Anthony, Paznekas, William, Webb, Bryn D, Faye-Petersen, Ona, Encha-Razavi, Férechté, Lequeux, Leopoldine, Vigouroux, Adeline, Yesilyurt, Ahmet, Boyadjiev, Simeon A, Kayserili, Hülya, Loget, Philippe, Carles, Dominique, Sergi, Consolato, Puvabanditsin, Surasak, Chen, Chih-Ping, Etchevers, Heather C, Katsanis, Nicholas, Mercer, Catherine L, Calvas, Patrick, Jabs, Ethylin Wang
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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Visual screening in infancy: recommendation's update in France
Bonifas-Rodier, Christelle, Thouvenin, Dominique, Lequeux, Léopoldine
Published in La Revue du praticien (01.12.2020)
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Published in La Revue du praticien (01.12.2020)
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