检索结果 - Bonnet, Crystel

A mitotically inheritable unit containing a MAP kinase module 由 Kicka, Sébastien, Bonnet, Crystel, Sobering, Andrew K., Ganesan, Latha P., Silar, Philippe

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Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis 由 Varnet, Léo, Léger, Agnès C., Boucher, Sophie, Bonnet, Crystel, Petit, Christine, Lorenzi, Christian

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mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein 由 Kaltimbacher, Valérie, Bonnet, Crystel, Lecoeuvre, Gaëlle, Forster, Valérie, Sahel, José-Alain, Corral-Debrinski, Marisol

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Phylogenetic analysis of Harmonin homology domains 由 Colcombet-Cazenave, Baptiste, Druart, Karen, Bonnet, Crystel, Petit, Christine, Spérandio, Olivier, Guglielmini, Julien, Wolff, Nicolas

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Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation 由 Zupan, Andrej, Fakin, Ana, Battelino, Saba, Jarc-Vidmar, Martina, Hawlina, Marko, Bonnet, Crystel, Petit, Christine, Glavač, Damjan

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A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders 由 Bousfiha, Amale, Bakhchane, Amina, Charoute, Hicham, Riahi, Zied, Snoussi, Khalid, Rouba, Hassan, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid

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EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss 由 Dahmani, Malika, Ammar-Khodja, Fatima, Bonnet, Crystel, Lefèvre, Gaelle M., Hardelin, Jean-Pierre, Ibrahim, Hassina, Mallek, Zahia, Petit, Christine

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Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis 由 Ben-Rebeh, Imen, Grati, Mhamed, Bonnet, Crystel, Bouassida, Walid, Hadjamor, Imen, Ayadi, Hammadi, Ghorbel, Abdelmonem, Petit, Christine, Masmoudi, Saber

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Optimized Allotopic Expression of the Human Mitochondrial ND4 Prevents Blindness in a Rat Model of Mitochondrial Dysfunction 由 Ellouze, Sami, Augustin, Sébastien, Bouaita, Aicha, Bonnet, Crystel, Simonutti, Manuel, Forster, Valérie, Picaud, Serge, Sahel, Jose-Alain, Corral-Debrinski, Marisol

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Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy 由 Fakin, Ana, Šuštar, Maja, Brecelj, Jelka, Bonnet, Crystel, Petit, Christine, Zupan, Andrej, Glavač, Damjan, Jarc-Vidmar, Martina, Battelino, Saba, Hawlina, Marko

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Screening of BRCA1/2 variants in Mauritanian breast cancer patients 由 Brahim, Selma Mohamed, Zein, Ekht Elbenina, Bonnet, Crystel, Hamed, Cheikh Tijani, Salame, Malak, Zein, Mohamed Vall, Khyatti, Meriem, Tolba, Ahmedou, Houmeida, Ahmed

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Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing 由 Ammar-Khodja, Fatima, Bonnet, Crystel, Dahmani, Malika, Ouhab, Sofiane, Lefèvre, Gaelle M, Ibrahim, Hassina, Hardelin, Jean-Pierre, Weil, Dominique, Louha, Malek, Petit, Christine

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Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness 由 Delmaghani, Sedigheh, Aghaie, Asadollah, Bouyacoub, Yosra, El Hachmi, Hala, Bonnet, Crystel, Riahi, Zied, Chardenoux, Sebastien, Perfettini, Isabelle, Hardelin, Jean-Pierre, Houmeida, Ahmed, Herbomel, Philippe, Petit, Christine

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Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene 由 Subirà, Olaia, Català-Mora, Jaume, Díaz-Cascajosa, Jesús, Padrón-Pérez, Noel, Claveria, M. A., Coll-Alsina, Natalia, Bonnet, Crystel, Petit, Christine, Caminal, J. M., Prat, Joan

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Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush 由 Fakin, Ana, Bonnet, Crystel, Kurtenbach, Anne, Mohand-Said, Saddek, Zobor, Ditta, Stingl, Katarina, Testa, Francesco, Simonelli, Francesca, Sahel, José-Alain, Audo, Isabelle, Zrenner, Eberhart, Hawlina, Marko, Petit, Christine

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Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma 由 Hadrami, Mouna, Bonnet, Crystel, Zeitz, Christina, Veten, Fatimetou, Biya, Med, Hamed, Cheikh T., Condroyer, Christel, Wang, Panfeng, Sidi, Med Mahmoud, Cheikh, Sidi, Zhang, Qingjiong, Audo, Isabelle, Petit, Christine, Houmeida, Ahmed

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EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness 由 Behlouli, Asma, Bonnet, Crystel, Abdi, Samia, Bouaita, Aïcha, Lelli, Andrea, Hardelin, Jean-Pierre, Schietroma, Cataldo, Rous, Yahia, Louha, Malek, Cheknane, Ahmed, Lebdi, Hayet, Boudjelida, Kamel, Makrelouf, Mohamed, Zenati, Akila, Petit, Christine

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Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort 由 Smirnov, Vasily M., Nassisi, Marco, Mohand-Saïd, Saddek, Bonnet, Crystel, Aubois, Anne, Devisme, Céline, Dib, Thilissa, Zeitz, Christina, Loundon, Natalie, Marlin, Sandrine, Petit, Christine, Bodaghi, Bahram, Sahel, José-Alain, Audo, Isabelle

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The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells 由 Pepermans, Elise, Michel, Vincent, Goodyear, Richard, Bonnet, Crystel, Abdi, Samia, Dupont, Typhaine, Gherbi, Souad, Holder, Muriel, Makrelouf, Mohamed, Hardelin, Jean-Pierre, Marlin, Sandrine, Zenati, Akila, Richardson, Guy, Avan, Paul, Bahloul, Amel, Petit, Christine

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Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome 由 Abdi, Samia, Bahloul, Amel, Behlouli, Asma, Hardelin, Jean-Pierre, Makrelouf, Mohamed, Boudjelida, Kamel, Louha, Malek, Cheknene, Ahmed, Belouni, Rachid, Rous, Yahia, Merad, Zahida, Selmane, Djamel, Hasbelaoui, Mokhtar, Bonnet, Crystel, Zenati, Akila, Petit, Christine

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