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المؤلفون: Zied Riahi, Redouane Boulouiz, Crystel Bonnet, Hicham Charoute, Soukaina Elrharchi, Lamiae Elkhattabi, Sara Salime, Christine Petit, Abdelhamid Barakat, Mostafa Kabine
المصدر: Human Heredity. 85:35-39
مصطلحات موضوعية: Genetics, 0303 health sciences, AIFM1, Auditory neuropathy, Biology, medicine.disease, 03 medical and health sciences, Hearing disorder, 0302 clinical medicine, medicine.anatomical_structure, Mutation (genetic algorithm), medicine, Hair cell, Gene, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing, Cochlea, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f4ab8c9272cf1a0e7738992d9b386ff9
https://doi.org/10.1159/000512712 -
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المؤلفون: Zied Riahi, Hassan Rouba, Mostafa Kabine, Soukaina Elrharchi, Abdelhamid Barakat, Sara Salime, Crystel Bonnet, Christine Petit, Halima Nahili
المصدر: International Journal of Pediatric Otorhinolaryngology. 113:46-50
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Mutation, Missense, 030232 urology & nephrology, Metabolic alkalosis, Bartter syndrome, 03 medical and health sciences, Exon, 0302 clinical medicine, Chloride Channels, medicine, Humans, Missense mutation, Genetics, business.industry, Homozygote, Bartter Syndrome, Exons, General Medicine, medicine.disease, Hyperaldosteronism, Pedigree, Morocco, Bartter's syndrome, 030104 developmental biology, Otorhinolaryngology, Bsnd gene, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business
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المؤلفون: Zied Riahi, Majida Charif, Christine Petit, Amale Bousfiha, Ghita Amalou, Aymane Bouzidi, Crystel Bonnet, Guy Lenaers, Soukaina Elrharchi, Abdelhamid Barakat, Mostafa Kandil
المساهمون: Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Chouaib Doukkali (UCD), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ED 515 - Complexité du vivant, Sorbonne Université (SU), Faculté des Sciences Ben M'sik [Casablanca], Université Hassan II [Casablanca] (UH2MC), Université Mohamed 1 Oujda MAROC, Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Collège de France (CdF (institution)), This work was supported by Pasteur Institute of Morocco (IPM). This project was financially supported by CAMPUS FRANCE (PHC TOUBKAL 2019 (French-Morocco bilateral program) Grant Number: 39005ZL)., The authors are indebted to the family that contributed to this study and to the CAMPUS FRANCE French-Morocco PHC TOUBKAL 2019 bilateral program (Grant Number: 39005ZL)., Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩مصطلحات موضوعية: Hearing loss, MPZL2, [SDV]Life Sciences [q-bio], Deafness, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Tandem repeat, 030225 pediatrics, medicine, otorhinolaryngologic diseases, Humans, Allele, 030223 otorhinolaryngology, Hearing Loss, Genotyping, Gene, Exome sequencing, Genetics, business.industry, Haplotype, Homozygote, Non syndromic hearing loss, General Medicine, 3. Good health, Pedigree, Morocco, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, medicine.symptom, business, Cell Adhesion Molecules
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المؤلفون: Christine Petit, Lamiae Elkhattabi, Sara Salime, Crystel Bonnet, Soukaina Elrharchi, Abdelhamid Barakat, Zied Riahi, Hassan Rouba, Halima Nahili, Hicham Charoute, Mostafa Kabine
المساهمون: Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), Université Hassan II [Casablanca] (UH2MC), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC), Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by Pasteur Institute of Morocco (IPM)., Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Collège de France - Chaire Génétique et physiologie cellulaire
المصدر: Gene
Gene, Elsevier, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩
Gene, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩مصطلحات موضوعية: 0301 basic medicine, Male, genetic structures, Hearing loss, MESH: Pedigree, [SDV]Life Sciences [q-bio], Mutation, Missense, MESH: Deafness, Biology, Deafness, 03 medical and health sciences, Exon, Consanguinity, 0302 clinical medicine, Genetics, medicine, otorhinolaryngologic diseases, Myopia, Prelingual deafness, Humans, Gene, MESH: Consanguinity, MESH: Mutation, Missense, MESH: Humans, SLITRK6, MESH: Myopia, High myopia, Membrane Proteins, General Medicine, Exons, eye diseases, MESH: Male, Pedigree, Morocco, 030104 developmental biology, MESH: Morocco, Female, sense organs, MESH: Membrane Proteins, medicine.symptom, MESH: Exons, Novel mutation, Deleterious mutation, MESH: Female, 030215 immunology
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المؤلفون: Khalid Snoussi, Abdelhamid Barakat, Mostafa Kabine, Soukaina Elrharchi, Amina Bakhchane, Hicham Charoute, Guy Lenaers, Majida Charif, Sara Salime, Amale Bousfiha
المصدر: International journal of pediatric otorhinolaryngology. 101
مصطلحات موضوعية: 0301 basic medicine, Male, MYO15A, Candidate gene, Hearing loss, Hearing Loss, Sensorineural, Nerve Tissue Proteins, Myosins, medicine.disease_cause, 03 medical and health sciences, symbols.namesake, otorhinolaryngologic diseases, medicine, Humans, Genetic Predisposition to Disease, Gene, Exome sequencing, Genetics, Sanger sequencing, Mutation, business.industry, Homozygote, General Medicine, medicine.disease, Pedigree, Morocco, 030104 developmental biology, Persons With Hearing Impairments, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, symbols, Sensorineural hearing loss, Female, medicine.symptom, business
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المؤلفون: Hind Dehbi, Amale Bousfiha, Sellama Nadifi, Amina Bakhchane, Soukaina Elrharchi, Mostafa Kabine, Abdelhamid Barakat, Hicham Charoute
المصدر: Current research in translational medicine. 64(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Heterozygote, Hearing loss, Hearing Loss, Sensorineural, Mutation, Missense, Genes, Recessive, Biology, medicine.disease_cause, Compound heterozygosity, General Biochemistry, Genetics and Molecular Biology, Connexins, 03 medical and health sciences, Keratoderma, Palmoplantar, otorhinolaryngologic diseases, medicine, Diseases in Twins, Humans, Point Mutation, Allele, Child, Alleles, Genes, Dominant, Sequence Deletion, Genetics, Mutation, Base Sequence, Point mutation, Heterozygote advantage, General Medicine, medicine.disease, Phenotype, Pedigree, Connexin 26, Morocco, 030104 developmental biology, Palmoplantar keratoderma, Amino Acid Substitution, Female, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cd4376439978384ceec2303dd09c50d
https://pubmed.ncbi.nlm.nih.gov/27316387
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