-
1
المؤلفون: Daniel T. Kashima, Christina M. Sloan‐Heggen, Rachel J. Gottlieb‐Smith, Amanda Barone Pritchard
المصدر: American Journal of Medical Genetics Part A. 191:1614-1618
مصطلحات موضوعية: Genetics, Genetics (clinical)
-
2
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
-
3
المؤلفون: Carla Nishimura, Sean S. Ephraim, Robert J. Marini, A. Eliot Shearer, Christina M. Sloan-Heggen, Terry A. Braun, Richard J.H. Smith, Michael J. Schnieders, Kevin T. Booth, Elizabeth A. Black-Ziegelbein, Hela Azaiez, Diana L. Kolbe, Bradley Crone, Thomas L. Casavant
المصدر: American Journal of Human Genetics
مصطلحات موضوعية: 0301 basic medicine, genetic variant, Hearing loss, precision medicine, Computational biology, Biology, Deafness, Article, 03 medical and health sciences, Gene Frequency, Databases, Genetic, Genetics, medicine, Humans, variant classification, Hearing Loss, Gene, Uncertain significance, Genetics (clinical), database, Genetic variants, genomic landscape, mutational signature, Genomics, Precision medicine, Phenotype, Minor allele frequency, 030104 developmental biology, Mutation, Allelic heterogeneity, medicine.symptom
-
4
المؤلفون: Kevin T. Booth, Carla Nishimura, Donghong Wang, Colleen A. Campbell, Seiji B. Shibata, Amanda O. Bierer, A. Eliot Shearer, Richard J.H. Smith, Kathy L. Frees, Hela Azaiez, Diana L. Kolbe, E. Ann Black-Ziegelbein, Sean S. Ephraim, Paul T. Ranum, Christina M. Sloan-Heggen, Amy E. Weaver
المصدر: Human Genetics
مصطلحات موضوعية: 0301 basic medicine, Male, MYO15A, Adolescent, Hearing loss, Biology, Bioinformatics, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Genetics, medicine, Humans, Genetics(clinical), Genetic Testing, Family history, Child, Hearing Loss, Genetics (clinical), Genetic testing, Original Investigation, Massive parallel sequencing, medicine.diagnostic_test, Genetic heterogeneity, Infant, Human genetics, 3. Good health, 030104 developmental biology, Child, Preschool, Female, medicine.symptom, 030217 neurology & neurosurgery, STRC
-
5
المؤلفون: Nooshin Nikzat, Kevin T. Booth, Richard J.H. Smith, Allen C. Simpson, Kimia Kahrizi, Maryam Beheshtian, Reza Mozafari, Fariba Ardalani, Mojgan Babanejad, Farahnaz Sabbagh, Kathy L. Frees, Nicole C. Meyer, Leila Jamali, Zohreh Mehrjoo, Niloofar Bazazzadegan, Sanaz Arzhangi, Hossein Khodaei, Christina M. Sloan-Heggen, Tara Akhtarkhavari, Maryam Taghdiri, Hela Azaiez, Mohammad Farhadi, Marzieh Mohseni, Hasan Otukesh, Seyed Morteza Seifati, Hossein Najmabadi, Saeideh Vaziri, Ahmad Daneshi
المصدر: Journal of Medical Genetics. 52:823-829
مصطلحات موضوعية: MYO15A, medicine.medical_specialty, Hearing loss, Genes, Recessive, Consanguinity, Iran, Biology, Connexins, Article, Gene Frequency, Molecular genetics, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Hearing Loss, Genetic Association Studies, Genetics (clinical), Massive parallel sequencing, Genetic heterogeneity, Founder Effect, Connexin 26, Medical genetics, medicine.symptom, Founder effect
-
6
المؤلفون: Jean Jacques Noubiap, Regie Lyn P. Santos-Cortez, Diana L. Kolbe, Kevin T. Booth, Kamogelo Lebeko, Richard J.H. Smith, Sean S. Ephraim, Ambroise Wonkam, Hela Azaiez, Suzanne M. Leal, Christina M. Sloan-Heggen, Collet Dandara
المصدر: Clinical Genetics. 90:288-290
مصطلحات موضوعية: 0301 basic medicine, Genetics, Massive parallel sequencing, medicine.diagnostic_test, Extramural, Genomics, Biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, parasitic diseases, Mutation (genetic algorithm), Genotype, medicine, Gene, Genetics (clinical), Genetic testing
-
7
المؤلفون: Marlan R. Hansen, A. Eliot Shearer, Paul J. Abbas, Richard J.H. Smith, Carolyn J. Brown, Robert W. Eppsteiner, Kathy L. Frees, Camille C. Dunn, Viral D. Tejani, Bruce J. Gantz, Christina M. Sloan-Heggen
المصدر: Hearing research. 348
مصطلحات موضوعية: Male, medicine.medical_treatment, Audiology, Deafness, 0302 clinical medicine, Hearing, Cochlear implant, Medicine, 030223 otorhinolaryngology, medicine.diagnostic_test, Serine Endopeptidases, Genomics, Middle Aged, Cochlear Implantation, Sensory Systems, Cochlea, Neoplasm Proteins, medicine.anatomical_structure, Treatment Outcome, Speech Perception, Female, medicine.symptom, Spiral Ganglion, Adult, medicine.medical_specialty, Speech perception, Adolescent, Hearing loss, education.educational_degree, Models, Neurological, Affect (psychology), Habilitation, Article, 03 medical and health sciences, Audiometry, otorhinolaryngologic diseases, Auditory system, Humans, education, Hearing Loss, Spiral ganglion, Genetic testing, Aged, business.industry, Genetic Variation, Membrane Proteins, Cochlear Implants, sense organs, business, 030217 neurology & neurosurgery
-
8
المؤلفون: Christina M. Sloan-Heggen, Richard J.H. Smith
المصدر: Current opinion in pediatrics. 28(6)
مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Clinical tests, medicine.medical_specialty, DNA Copy Number Variations, Hearing loss, MEDLINE, Audiology, Bioinformatics, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, In patient, Genetic Testing, 030223 otorhinolaryngology, Hearing Loss, Genetic testing, Massive parallel sequencing, medicine.diagnostic_test, business.industry, Extramural, High-Throughput Nucleotide Sequencing, 030104 developmental biology, Genetic marker, Pediatrics, Perinatology and Child Health, medicine.symptom, business
-
9
المؤلفون: Richard J.H. Smith, Tomomi Yamaguchi, Yoh-ichiro Iwasa, Hideaki Moteki, Keiko Wakui, Shin-ichi Usami, Yoshimitsu Fukushima, Kevin T. Booth, Diana L. Kolbe, Christina M. Sloan-Heggen, A. Eliot Shearer, Shin-ya Nishio, Hela Azaiez
المصدر: The Annals of otology, rhinology, and laryngology. 125(11)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, DNA Copy Number Variations, Hearing loss, Copy number analysis, Deafness, Article, Massively parallel signature sequencing, 03 medical and health sciences, Medicine, Humans, Copy-number variation, Genetic Testing, Child, Gene, Genetics, Comparative Genomic Hybridization, Massive parallel sequencing, business.industry, High-Throughput Nucleotide Sequencing, Membrane Proteins, General Medicine, 030104 developmental biology, Otorhinolaryngology, Intercellular Signaling Peptides and Proteins, Female, medicine.symptom, business, STRC, Comparative genomic hybridization