المؤلفون: Eva Lorenz, Kathy L. Frees, David A. Schwartz

المصدر: BioTechniques, Vol 31, Iss 1, Pp 22-24 (2001)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0736-6205; https://doaj.org/toc/1940-9818

URL الوصول: https://doaj.org/article/9bef1ce8721341b384181ed7bb3872b7

المؤلفون: Kristen L Seligman, Marlan R. Hansen, Kathy L. Frees, A. Eliot Shearer, Diana L. Kolbe, Bruce J. Gantz, Carla Nishimura, Camille C. Dunn, Richard J.H. Smith

المصدر: Otolaryngol Head Neck Surg

مصطلحات موضوعية: Adult, medicine.medical_specialty, MYO7A, Hearing loss, medicine.medical_treatment, Deafness, Audiology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Cochlear implant, Genetic variation, otorhinolaryngologic diseases, medicine, Humans, Child, Hearing Loss, 030223 otorhinolaryngology, Cochlear implantation, Genetic testing, medicine.diagnostic_test, business.industry, Serine Endopeptidases, Membrane Proteins, Cochlear Implantation, Neoplasm Proteins, Large cohort, Cochlear Implants, Otorhinolaryngology, Genetic epidemiology, Surgery, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5beb1850c3d00a3aaf0143e388032d53
https://doi.org/10.1177/01945998211021308

المؤلفون: Miles J. Klimara, Carla Nishimura, Donghong Wang, Diana L. Kolbe, Amanda M. Schaefer, William D. Walls, Kathy L. Frees, Richard J.H. Smith, Hela Azaiez

المصدر: Genet Med

مصطلحات موضوعية: Mutation, Humans, High-Throughput Nucleotide Sequencing, Intercellular Signaling Peptides and Proteins, Exons, Deafness, Hearing Loss, Genetics (clinical), Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f27b6a767c2a511b19c366c89fe3f58a
https://pubmed.ncbi.nlm.nih.gov/36194208

المؤلفون: Michal Macarov, Yoel Hirsch, Karen B. Avraham, Josef Ekstein, Cynthia C. Morton, Richard J.H. Smith, Devorah Yefet, Jun Shen, Tzvi Weiden, Chantal Farra, Diana L. Kolbe, Kevin T. Booth, John Pappas, Rachel Rabin, Carla Nishimura, Minjie Luo, Chayada Tangshewinsirikul, Andrea M. Oza, Zippora Brownstein, Adina Quint, Katherine A Lafferty, Kathy L. Frees, Sami S. Amr, Sholem Y. Scher, Margaret A. Kenna, Bella Davidov, Hela Azaiez, Heidi L. Rehm

المصدر: Eur J Hum Genet
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-w

مصطلحات موضوعية: Adult, Male, MYO15A, Adolescent, Hearing loss, RNA Splicing, Population, Genes, Recessive, Myosins, Biology, Compound heterozygosity, Article, 03 medical and health sciences, Gene Frequency, Genetics, medicine, Humans, Child, Hearing Loss, education, Genetics (clinical), Genetic testing, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, Genetic heterogeneity, 030305 genetics & heredity, Infant, medicine.disease, Phenotype, Pedigree, Child, Preschool, Jews, Mutation, Female, Sensorineural hearing loss, medicine.symptom

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a59c959649cc3aebd8383c0371b972af
https://doi.org/10.1038/s41431-020-00790-w

المؤلفون: Luke T Hovey, Kevin T. Booth, Kathy L. Frees, Carla Nishimura, Mohsin Shahzad, Muhammad Usman Rashid, Amama Ghaffar, Richard J.H. Smith, Hela Azaiez, Erika M Renkes, Zubair M. Ahmed, Saima Riazuddin, Mureed Hussain

المصدر: Hum Genet

مصطلحات موضوعية: Adult, Male, Adolescent, Hearing loss, Genes, Recessive, Deafness, Biology, Article, 03 medical and health sciences, Exon, Loss of Function Mutation, otorhinolaryngologic diseases, Genetics, medicine, Humans, Missense mutation, Child, Frameshift Mutation, Genetics (clinical), Loss function, Exome sequencing, 030304 developmental biology, Extracellular Matrix Proteins, 0303 health sciences, 030305 genetics & heredity, Exons, Null allele, Cochlea, Pedigree, Codon, Nonsense, Child, Preschool, RNA splicing, Female, medicine.symptom, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7cd2ea6a6b9ffd90065dbd98836f28d
https://doi.org/10.1007/s00439-020-02197-5

المؤلفون: Carla Nishimura, Amy E. Weaver, Richard J.H. Smith, Ashley S. Ko, Hela Azaiez, Kathy L. Frees, Kevin T. Booth, Heather A. Stiff, Arlene V. Drack, Donghong Wang, John Kamholz, Diana L. Kolbe, Wanda L. Pfeifer, Christina M. Sloan-Heggen

المصدر: Ophthalmic Genet

مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, medicine.medical_specialty, Pediatrics, Adolescent, Genotype, Hearing loss, Usher syndrome, Visual impairment, Deafness, 030105 genetics & heredity, Blindness, Article, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, otorhinolaryngologic diseases, Humans, Medicine, Genetic Predisposition to Disease, Medical diagnosis, Child, Genetics (clinical), Retrospective Studies, business.industry, Infant, Middle Aged, Prognosis, medicine.disease, Ophthalmology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Cohort, 030221 ophthalmology & optometry, Etiology, Female, Differential diagnosis, medicine.symptom, business, Usher Syndromes, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c02c184b4ddd929049728ac928b7834c
https://doi.org/10.1080/13816810.2020.1747088

المؤلفون: Richard J.H. Smith, Yuzhou Zhang, Michael N. Jones, Kai Wang, Nicolò Borsa, Carla M. Nester, Erika Takanami, Fengxiao Bu, Amanda Taylor, Kathy L. Frees, Christie P. Thomas, Nicole C. Meyer

المصدر: Journal of the American Society of Nephrology. 29:2809-2819

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Thrombotic microangiopathy, Adolescent, Biology, Population stratification, Young Adult, 03 medical and health sciences, Gene Frequency, Databases, Genetic, Atypical hemolytic uremic syndrome, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Vitronectin, Child, Aged, Atypical Hemolytic Uremic Syndrome, Genetics, CD46, Infant, Newborn, Genetic Variation, Infant, Complement System Proteins, General Medicine, Middle Aged, medicine.disease, Blood Coagulation Factors, Human genetics, Complement system, Minor allele frequency, Basic Research, 030104 developmental biology, Nephrology, Child, Preschool, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6a5e5c4c3bcfea04bafe9ed08636d1c
https://doi.org/10.1681/asn.2018070759

المؤلفون: Carla Nishimura, Saima Riazuddin, Amama Ghaffar, Richard J.H. Smith, Muhammad Ather Rashid, Kevin T. Booth, Luke T Hovey, Erika M Renkes, Mureed Hussain, Zubair M. Ahmed, Kathy L. Frees, Mohsin Shahzad, Hela Azaiez

مصطلحات موضوعية: Genetics, 0303 health sciences, Hearing loss, Biology, medicine.disease, Null allele, 03 medical and health sciences, Exon, 0302 clinical medicine, RNA splicing, medicine, otorhinolaryngologic diseases, Missense mutation, Nonsyndromic deafness, medicine.symptom, 030217 neurology & neurosurgery, Exome sequencing, Loss function, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b76b5b297bcfa08071a3c8003cdef84d

المؤلفون: Terry A. Braun, Guy P. Richardson, Carla Nishimura, A. Monique Weaver, Shin-ichi Usami, Shin-ya Nishio, Hela Azaiez, Yoichiro Iwasa, Amanda M. Schaefer, Robert J. Marini, Kathy L. Frees, Hidekane Yoshimura, Thomas L. Casavant, Hideaki Moteki, Peter G. Barr-Gillespie, Diana L. Kolbe, Taylor R. Thomas, W. Daniel Walls, Kai Wang, Richard J.H. Smith, Kevin T. Booth

المصدر: Hum Genet

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Hearing loss, Hearing Loss, Sensorineural, Ethnic group, Gene Expression, Biology, GPI-Linked Proteins, White People, Article, 03 medical and health sciences, Asian People, Audiometry, Japan, Genetics, medicine, Humans, TECTA, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Aged, Aged, 80 and over, 0303 health sciences, Extracellular Matrix Proteins, medicine.diagnostic_test, KCNQ Potassium Channels, 030305 genetics & heredity, Infant, Newborn, Infant, Membrane Proteins, Middle Aged, Human genetics, United States, Pedigree, Phenotype, Evolutionary biology, Case-Control Studies, Child, Preschool, Mutation (genetic algorithm), Mutation, Female, medicine.symptom, KCNQ4

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cd23c197428102377f449fcddbcd9b3
https://pubmed.ncbi.nlm.nih.gov/32382995

المؤلفون: Michael J. Schnieders, Jill Hauer, Fengxiao Bu, Hela Azaiez, Nicole C. Meyer, Erika Takanami, Elizabeth A. Black-Ziegelbein, Nicolò Borsa, Christie P. Thomas, Kathy L. Frees, Michael N. Jones, Diana L. Kolbe, Yingyue Li, Carla Nishimura, Carla M. Nester, Richard J.H. Smith

المصدر: Journal of the American Society of Nephrology. 27:1245-1253

مصطلحات موضوعية: Male, 0301 basic medicine, Thrombotic microangiopathy, Adolescent, Kidney Glomerulus, Thrombotic thrombocytopenic purpura, Context (language use), Biology, Bioinformatics, 03 medical and health sciences, Clinical Research, Atypical hemolytic uremic syndrome, medicine, Humans, Genetic Testing, Child, Genetic testing, Genetics, Massive parallel sequencing, medicine.diagnostic_test, Thrombotic Microangiopathies, CD46, Complement C3, General Medicine, medicine.disease, 030104 developmental biology, Nephrology, Child, Preschool, Female, Kidney Diseases, CFHR5

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f499bfe47815def588c640bf60923a
https://doi.org/10.1681/asn.2015040385