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1دورية أكاديمية
المؤلفون: Tingang Wonkam, E., Chimusa, E., Noubiap, J.J., Adadey, S.M., F Fokouo, J.V., Wonkam, A.
مصطلحات موضوعية: Hearing impairment, genetics, GJB2 and GJB6, Cameroon, Africa, Humans, Hearing Loss, Sensorineural, Connexins, Pedigree, Mutation, Adolescent, Adult, Aged, Middle Aged, Child, Preschool, Infant, Female, Male, Connexin 30
وصف الملف: application/pdf
العلاقة: Genes, 2019; 10(11):1-9; https://hdl.handle.net/2440/132658Test
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2
المؤلفون: Francesco Longo, Aurelio D'Ecclesia, Marco Castori, Rocco Pio Ortore, Eleonora M C Trecca, Antonio Petracca, Salvatore Melchionda, Orazio Palumbo, Ciro Lucio Vigliaroli, Maria Pia Leone, Lucia Micale
المصدر: Audiology Research
Audiology Research, Vol 11, Iss 41, Pp 443-451 (2021)مصطلحات موضوعية: Genetics, Hearing loss, Pseudogene, OTO, Locus (genetics), Case Report, autosomal recessive, Biology, Compound heterozygosity, medicine.disease, otoancorin, RF1-547, Otorhinolaryngology, deafness, medicine, biology.protein, Sensorineural hearing loss, Allelic heterogeneity, medicine.symptom, microdeletion, Gene, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb9f3d4fd7005cb8fd89877357c1f96dTest
http://europepmc.org/articles/PMC8482239Test -
3
المؤلفون: Jean Valentin F. Fokouo, Jean Jacques Noubiap, Samuel Mawuli Adadey, Edmond Wonkam, Ambroise Wonkam, Emile R. Chimusa
المصدر: Genes
Volume 10
Issue 11
Genes, Vol 10, Iss 11, p 844 (2019)مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Usher syndrome, Connexin, medicine.disease_cause, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Multiplex polymerase chain reaction, medicine, otorhinolaryngologic diseases, GJB2 and GJB6, genetics, Cameroon, Genetics (clinical), Sanger sequencing, Genetics, Mutation, biology, Waardenburg syndrome, business.industry, hearing impairment, medicine.disease, lcsh:Genetics, 030104 developmental biology, Africa, symbols, biology.protein, business, 030217 neurology & neurosurgery, GJB6, Non syndromic
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddd0ac28ffc791ba3245c122dc78f6f0Test
http://europepmc.org/articles/PMC6895965Test -
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المؤلفون: Viviana Karina Dalamon, Leonela Natalia Luce, Sebastián Menazzi, Ana Belén Elgoyhen, Vanesa Lotersztein, Bibiana Paoli, Paula Inés Buonfiglio, Florencia Giliberto, Carlos David Bruque
المصدر: Genes
Genes, Vol 11, Iss 1233, p 1233 (2020)
Volume 11
Issue 10
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, CURATION, Hearing loss, Genetic counseling, Genomics, Bioinformatics, Article, purl.org/becyt/ford/1 [https], HEARING LOSS, 03 medical and health sciences, 0302 clinical medicine, GJB6, Genetics, otorhinolaryngologic diseases, Medicine, argentina, GENETIC VARIANTS, purl.org/becyt/ford/1.6 [https], Genetics (clinical), hearing loss, ARGENTINA, biology, Molecular pathology, business.industry, genetic variants, curation, GJB2, lcsh:Genetics, 030104 developmental biology, Categorization, Cohort, biology.protein, Medical genetics, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::248eab97a8b04c07b001b9146ee400aeTest
http://europepmc.org/articles/PMC7589744Test -
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المؤلفون: Edmond Wonkam Tingang, Oluwafemi Gabriel Oluwole, Emile R. Chimusa, Jean Jacques Noubiap, Séraphin Nguefack, Ambroise Wonkam, Jean Valentin F. Fokouo
المصدر: Genes
Genes, Vol 11, Iss 2, p 233 (2020)مصطلحات موضوعية: 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, lcsh:QH426-470, Genotype, Usher syndrome, Hearing Loss, Sensorineural, Population, prevalence, Review, Deafness, Connexins, etiologies, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, genetics, Cameroon, 030223 otorhinolaryngology, education, Hearing Loss, Genetics (clinical), education.field_of_study, biology, business.industry, Pathogenic mutation, Incidence (epidemiology), Incidence, hearing impairment, medicine.disease, 3. Good health, lcsh:Genetics, 030104 developmental biology, Africa, Mutation, biology.protein, Etiology, business, Meningitis, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81a6120031357dd7171bba61c278e95bTest
http://europepmc.org/articles/PMC7073999Test