Výsledky vyhledávání - Charif, Majida

Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes Autor Bouzidi, Aymane, Charif, Majida, Bouzidi, Adil, Amalou, Ghita, Kandil, Mostafa, Barakat, Abdelhamid, Lenaers, Guy

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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies Autor Bouzidi, Aymane, Charoute, Hicham, Charif, Majida, Amalou, Ghita, Kandil, Mostafa, Barakat, Abdelhamid, Lenaers, Guy

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Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees Autor Bakhchane, Amina, Charif, Majida, Salime, Sara, Boulouiz, Redouane, Nahili, Halima, Roky, Rachida, Lenaers, Guy, Barakat, Abdelhamid

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Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss Autor Bakhchane, Amina, Charif, Majida, Bousfiha, Amale, Boulouiz, Redouane, Nahili, Halima, Rouba, Hassan, Charoute, Hicham, Lenaers, Guy, Barakat, Abdelhamid

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A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY Autor Meunier, Isabelle, Bocquet, Béatrice, Charif, Majida, Dhaenens, Claire-Marie, Manes, Gael, Amati-Bonneau, Patrizia, Roubertie, Agathe, Zanlonghi, Xavier, Lenaers, Guy

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Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss Autor Charif, Majida, Boulouiz, Redouane, Bakhechane, Amina, Benrahma, Houda, Nahili, Halima, Eloualid, Abdelmajid, Rouba, Hassan, Kandil, Mostafa, Abidi, Omar, Lenaers, Guy, Barakat, Abdelhamid

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Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing Autor Bris, Céline, Goudenege, David, Desquiret-Dumas, Valérie, Charif, Majida, Colin, Estelle, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent

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Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma Autor Abidi, Omar, Knari, Sara, Sefri, Hajar, Charif, Majida, Senechal, Audrey, Hamel, Christian, Rouba, Hassan, Zaghloul, Khalid, El Kettani, Asmaa, Lenaers, Guy, Barakat, Abdelhamid

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Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy Autor Charif, Majida, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Colin, Estelle, Ziegler, Alban, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Lenaers, Guy, Amati-Bonneau, Patrizia

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Characterization of SSBP1-related optic atrophy and foveopathy Autor Meunier, Isabelle, Bocquet, Béatrice, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Arndt, Carl, Picot, Marie Christine, Dollfus, Hélène, Charif, Majida, Audo, Isabelle, Huguet, Hélèna, Zanlonghi, Xavier, Lenaers, Guy

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Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! Autor Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy

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Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility Autor Eloualid, Abdelmajid, Abidi, Omar, Charif, Majida, El houate, Brahim, Benrahma, Houda, Louanjli, Noureddine, Chadli, Elbakkay, Ajjemami, Maria, Barakat, Abdelhamid, Bashamboo, Anu, McElreavey, Ken, Rhaissi, Houria, Rouba, Hassan

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Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion Autor Eloualid, Abdelmajid, Rhaissi, Houria, Reguig, Ahmed, Bounaceur, Safaa, El houate, Brahim, Abidi, Omar, Charif, Majida, Louanjli, Noureddine, Chadli, Elbakkay, Barakat, Abdelhamid, Bashamboo, Anu, McElreavey, Ken, Rouba, Hassan

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Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy Autor Charif, Majida, Wong, Yvette C., Kim, Soojin, Guichet, Agnès, Vignal, Catherine, Zanlonghi, Xavier, Bensaid, Philippe, Procaccio, Vincent, Bonneau, Dominique, Amati-Bonneau, Patrizia, Reynier, Pascal, Krainc, Dimitri, Lenaers, Guy

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Cancer/Testis Antigen 55 is required for cancer cell proliferation and mitochondrial DNA maintenance Autor Aurrière, Jade, Goudenege, David, Baechler, Simone A, Huang, Shar-Yin N, Gueguen, Naig, Desquiret-Dumas, Valerie, Chabrun, Floris, Perrot, Rodolphe, Chevrollier, Arnaud, Charif, Majida, Baris, Olivier, Pommier, Yves, Lenaers, Guy, Khiati, Salim

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ACO2 clinicobiological dataset with extensive phenotype ontology annotation Autor Guehlouz, Khadidja, Foulonneau, Thomas, Amati-Bonneau, Patrizia, Charif, Majida, Colin, Estelle, Bris, Céline, Desquiret-Dumas, Valérie, Milea, Dan, Gohier, Philippe, Procaccio, Vincent, Bonneau, Dominique, den Dunnen, Johan T., Lenaers, Guy, Reynier, Pascal, Ferré, Marc

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AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? Autor Roubertie, Agathe, Hieu, Nelson, Roux, Charles-Joris, Leboucq, Nicolas, Manes, Gael, Charif, Majida, Echenne, Bernard, Goizet, Cyril, Guissart, Claire, Meyer, Pierre, Marelli, Cecilia, Rivier, François, Burglen, Lydie, Horvath, Rita, Hamel, Christian P., Lenaers, Guy

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First characterization of LHON pedigrees in North Africa Autor Bouzidi, Aymane, Aboussair, Nisrine, Charif, Majida, Amalou, Ghita, Goudenège, David, Desquiret-Dumas, Valérie, Bris, Céline, Sifeddine, Najat, Nahili, Halima, Elqabli, Meriem, Dafir, Kenza, Kandil, Mostafa, Amati-Bonneau, Patrizia, Procaccio, Vincent, Barakat, Abdelhamid, Lenaers, Guy

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Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy Autor Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Kane, Selma, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valerie, Meunier, Isabelle, Mochel, Fanny, Jeanjean, Luc, Varenne, Fanny, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy

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Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss Autor Li, Yun, Pohl, Esther, Boulouiz, Redouane, Schraders, Margit, Nürnberg, Gudrun, Charif, Majida, Admiraal, Ronald J.C., von Ameln, Simon, Baessmann, Ingelore, Kandil, Mostafa, Veltman, Joris A., Nürnberg, Peter, Kubisch, Christian, Barakat, Abdelhamid, Kremer, Hannie, Wollnik, Bernd

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