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المؤلفون: Ali Al-Memar, Michael A. Simpson, Katherine J. Dick, Michael A. Patton, Johanna A. Reed, Barry A. Chioza, Robert N. Lightowlers, Zofia M.A. Chrzanowska-Lightowlers, Harold E. Cross, Kay Gurtz, Andrew H. Crosby, Christos Proukakis, Heema Patel, Gaurav V. Harlalka, Reza Sharifi
المصدر: The American Journal of Human Genetics. 87:655-660
مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Ataxia, Adolescent, Cerebellar Ataxia, Polyadenylation, RNA, Mitochondrial, Molecular Sequence Data, Biology, Mitochondrion, medicine.disease_cause, Mitochondrial Proteins, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Report, RNA polymerase, Genetics, medicine, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Messenger RNA, Mutation, Base Sequence, Cerebellar ataxia, DNA-Directed RNA Polymerases, Pedigree, 3. Good health, Cell biology, Optic Atrophy, Genes, Mitochondrial, chemistry, Child, Preschool, Paraparesis, Spastic, Female, medicine.symptom, 030217 neurology & neurosurgery
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المؤلفون: Yuri S. Odaka, Oscar Diaz-Horta, Xia Juan Xia, Mustafa Tekin, Juan I. Young, Jun Aruga, Yoshifumi Matsumoto, Kazuto Sakoori, Maria Grigoriadou, Suna Tokgoz-Yilmaz, Andrew H. Crosby, Heather L. Moore-Barton, Arti Pandya, Joseph Foster, Michael B. Petersen, F. Basak Cengiz, Barry A. Chioza, Duygu Duman, Harold E. Cross, Haris Kokotas, Kay Gurtz, Maya Ota, Michael A. Patton, Ajith Sreekantan-Nair, Oya Tekeli
المصدر: Tekin, M, Chioza, B A, Matsumoto, Y, Diaz-Horta, O, Cross, H E, Duman, D, Kokotas, H, Moore-Barton, H L, Sakoori, K, Ota, M, Odaka, Y S, Foster, J, Cengiz, F B, Tokgoz-Yilmaz, S, Tekeli, O, Grigoriadou, M, Petersen, M B, Sreekantan-Nair, A, Gurtz, K, Xia, X-J, Pandya, A, Patton, M A, Young, J I, Aruga, J & Crosby, A H 2013, ' SLITRK6 mutations cause myopia and deafness in humans and mice ', Journal of Clinical Investigation, vol. 123, no. 5, pp. 2094-2102 . https://doi.org/10.1172/JCI65853
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, genetic structures, Adolescent, Hearing Loss, Sensorineural, Nonsense mutation, Mutant, Synaptogenesis, Biology, medicine.disease_cause, Mice, Young Adult, Hearing, Internal medicine, medicine, Myopia, Animals, Humans, Severe Myopia, Child, Genetics, Mice, Knockout, Mutation, Infant, Membrane Proteins, General Medicine, Middle Aged, Phenotype, eye diseases, Transmembrane protein, Pedigree, Protein Structure, Tertiary, Endocrinology, Membrane protein, Codon, Nonsense, Female, sense organs, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454c8f3e0629c2a7f2ce074d26832cb7
https://vbn.aau.dk/da/publications/c6f4ae3c-9162-4c9e-af3d-6120195b9a16 -
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المؤلفون: Csaba Galambos, Andrew H. Crosby, Kamini Kalidas, Kay Gurtz, Kenneth G. Zahka, Michael A. Simpson, Bradley B. Keller, Michael A. Patton, Harold E. Cross
المصدر: Heart (British Cardiac Society). 94(10)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Heart disease, Cardiomyopathy, Gene mutation, medicine.disease_cause, Sudden cardiac death, medicine, Humans, Gene, Genetics, Mutation, Splice site mutation, business.industry, Homozygote, Hypertrophic cardiomyopathy, Infant, Cardiomyopathy, Hypertrophic, medicine.disease, Protestantism, Female, Cardiology and Cardiovascular Medicine, business, Carrier Proteins
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المؤلفون: Frances M. Platt, Michael A. Patton, David A. Priestman, David C. A. Neville, Kay Gurtz, Michael A. Simpson, Harold E. Cross, Raymond A. Dwek, Argyro Verganelaki, Terry D. Butters, Max Wiznitzer, Gabriele Reinkensmeier, Andrew H. Crosby, Christos Proukakis, Heng Wang, Anna Pryde
المصدر: Nature genetics. 36(11)
مصطلحات موضوعية: Male, Sialyltransferase, Developmental Disabilities, Nonsense mutation, Genes, Recessive, Biology, Blindness, Glycosphingolipids, Lactosylceramide, Genetic linkage, Genetics, G(M3) Ganglioside, Humans, music, Epilepsy, music.instrument, Autosome, ATP synthase, Infant, Newborn, Infant, Syndrome, Founder Effect, Sialyltransferases, Pedigree, Codon, Nonsense, Chromosomes, Human, Pair 2, Old Order Amish, biology.protein, Female, lipids (amino acids, peptides, and proteins), Founder effect
