Výsledky vyhledávání - Bonnet, Crystel

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness Autor 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

Získat plný text Získat plný text Získat plný text

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene Autor 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

Získat plný text Získat plný text Získat plný text

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush Autor 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

Získat plný text Získat plný text Získat plný text

Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma Autor 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

Získat plný text Získat plný text

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness Autor 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

Získat plný text Získat plný text Získat plný text

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort Autor 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

Získat plný text Získat plný text Získat plný text

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells Autor 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

Získat plný text Získat plný text Získat plný text

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome Autor 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

Získat plný text Získat plný text Získat plný text