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المؤلفون: Fries, S., Unger, S., Cina, V., Strom, A., Paoloni-Giacobino, A., Simon, C., Senn, P., Cao Van, H.
المصدر: Revue medicale suisse, vol. 18, no. 798, pp. 1855-1859
مصطلحات موضوعية: Child, Cochlear Implantation, Cochlear Implants, Deafness/diagnosis, Hearing Loss/diagnosis, Hearing Loss/genetics, Humans, Infant, Newborn, Molecular Biology, Switzerland
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1900::c4494404fffeaad0c6688dee26cfb8d8
https://serval.unil.ch/notice/serval:BIB_8045358AE7CC -
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المؤلفون: Mette Neland, Flemming Wibrand, Elsebet Ostergaard, Morten Duno, Kirstine Ravn
المصدر: Ravn, K, Neland, M, Wibrand, F, Duno, M & Ostergaard, E 2016, ' Hearing impairment and renal failure associated with RMND1 mutations ', American Journal of Medical Genetics. Part A, vol. 170, no. 1, pp. 142–147 . https://doi.org/10.1002/ajmg.a.37399
مصطلحات موضوعية: 0301 basic medicine, Male, Mitochondrial Diseases, Respiratory chain, Cell Cycle Proteins, Bioinformatics, Compound heterozygosity, Renal Insufficiency/genetics, Renal Insufficiency, Child, Genetics (clinical), Exome sequencing, RMND1, medicine.diagnostic_test, Phenotype, Hypotonia, Mitochondrial disorder, Mitochondria, Pedigree, Whole-exome sequencing, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, Renal failure, Mutation/genetics, Adolescent, Respiratory Chain Deficiency, Encephalopathy, Molecular Sequence Data, Mitochondrial Diseases/genetics, Hearing impairment, 03 medical and health sciences, Western blot, Internal medicine, Hearing Loss/genetics, Genetics, medicine, Humans, Amino Acid Sequence, Hearing Loss, Cell Cycle Proteins/genetics, Sequence Homology, Amino Acid, business.industry, Infant, Newborn, Infant, medicine.disease, 030104 developmental biology, Endocrinology, Protein Biosynthesis, Mutation, Mitochondria/genetics, business
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