المؤلفون: Diana M Toledo, Katherine A Lafferty

المصدر: Clinical Chemistry. 69:211-212

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0a61292b7897ce49e94bc20eb5a9846fTest
https://doi.org/10.1093/clinchem/hvac223Test

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-wTest

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a59c959649cc3aebd8383c0371b972afTest
https://doi.org/10.1038/s41431-020-00790-wTest

المؤلفون: Naomi Meeks, Diana M. Toledo, Heather Mason-Suares, M Cristina Pacheco, Matthew S. Lebo, David Sharpe, Katherine A Lafferty, Jean Gekas, Thomas E. Mullen

المصدر: European Journal of Human Genetics. 25:509-511

مصطلحات موضوعية: 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, medicine.medical_specialty, Short Report, Protein Tyrosine Phosphatase, Non-Receptor Type 11, 030105 genetics & heredity, Biology, Germline, GTP Phosphohydrolases, 03 medical and health sciences, Germline mutation, Pregnancy, Genetics, medicine, Humans, Germ-Line Mutation, Genetics (clinical), Juvenile myelomonocytic leukemia, Noonan Syndrome, Infant, Newborn, Membrane Proteins, medicine.disease, PTPN11, Leukemia, 030104 developmental biology, Leukemia, Myelomonocytic, Juvenile, Medical genetics, Noonan syndrome, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e01a87d106f3669439f97bc86686b8Test
https://doi.org/10.1038/ejhg.2016.202Test

المؤلفون: Sami S. Amr, Mark Bowser, Katherine A Lafferty, Lisa Mahanta, Bryan Harrison, Elizabeth Duffy, Trevor J. Pugh, Rimma Shakhbatyan, Sivakumar Gowrisankar, Birgit Funke, Diana Mandelker, Heidi L. Rehm

المصدر: The Journal of Molecular Diagnostics. 16:639-647

مصطلحات موضوعية: Genetics, medicine.diagnostic_test, Hearing loss, Pseudogene, Locus (genetics), Biology, Gene dosage, Pathology and Forensic Medicine, medicine, Molecular Medicine, medicine.symptom, Gene, Exome, Genetic testing, STRC

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6190c78a52485827e13dad6cb9032d06Test
https://doi.org/10.1016/j.jmoldx.2014.06.003Test

المؤلفون: Theodorus J. Mulder, Audra L. Bettinelli, Sherri Longo, Birgit Funke, Dmitriy Niyazov, Katherine A Lafferty

المصدر: American Journal of Medical Genetics Part A. 161:3187-3190

مصطلحات موضوعية: Adult, Heart Septal Defects, Ventricular, Male, Heterozygote, medicine.medical_specialty, Ventricular Dysfunction, Left, Exon, Genetic etiology, Internal medicine, Genetics, medicine, Humans, Left ventricular hypertrabeculation, Child, Genetics (clinical), Likely pathogenic, Genetic testing, Myosin Heavy Chains, medicine.diagnostic_test, business.industry, Infant, Ebstein Anomaly, Endocrinology, EBSTEIN ANOMALY, Echocardiography, Child, Preschool, Mutation, Mutation (genetic algorithm), Cardiology, Female, MYH7, business, Cardiac Myosins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8911c61af54b8a4ad26f2fbdbf638a34Test
https://doi.org/10.1002/ajmg.a.36182Test

المؤلفون: Honey Nagakura, Gretchen Schneider, James Morris, Christina G.S. Palmer, Katherine A. Lafferty

المصدر: Journal of genetic counseling. 24(1)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hearing loss, Attitude of Health Personnel, Genetic counseling, education, Genetic Counseling, Sign language, Deafness, computer.software_genre, Sign Language, otorhinolaryngologic diseases, Medicine, Humans, Cultural Competency, Child, Curriculum, Genetics (clinical), Medical education, Deaf culture, business.industry, Public health, Communication Barriers, Professional-Patient Relations, Female, medicine.symptom, business, Cultural competence, computer, Interpreter, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e95e24d498184cb4a65f30a0fbdbe40Test
https://pubmed.ncbi.nlm.nih.gov/25030269Test