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1دورية أكاديمية
المؤلفون: Rie Asada Kitamura, Kristina G. Maxwell, Wenjuan Ye, Kelly Kries, Cris M. Brown, Punn Augsornworawat, Yoel Hirsch, Martin M. Johansson, Tzvi Weiden, Joseph Ekstein, Joshua Cohen, Justin Klee, Kent Leslie, Anton Simeonov, Mark J. Henderson, Jeffrey R. Millman, Fumihiko Urano
المصدر: JCI Insight, Vol 7, Iss 18 (2022)
مصطلحات موضوعية: Endocrinology, Genetics, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2379-3708
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2دورية أكاديمية
المؤلفون: Kevin T. Booth, Yoel Hirsch, Anna C. Vardaro, Josef Ekstein, Devorah Yefet, Adina Quint, Tzvi Weiden, David P. Corey
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: RNA-splicing, deafness, Ashkenazi Jewish, hearing loss, genotype-phenotype correlation, MYO15A, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: David A. Zeevi, Wendy K. Chung, Chaim Levi, Sholem Y. Scher, Rachel Bringer, Yael Kahan, Hagit Muallem, Rinat Benel, Yoel Hirsch, Tzvi Weiden, Ahron Ekstein, Josef Ekstein
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)
مصطلحات موضوعية: carrier frequency, Iranian Jewish, premarital genetic screening, Syrian Jewish, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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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-wمصطلحات 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
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المؤلفون: Kwong Wai Choy, Gema Garrido, Rebecca K. Siegert, Yoel Hirsch, Andrew R. Grant, Yu Lu, Alecia Willis, Hatice Duzkale, Lisa Schimmenti, Xue Zhong Liu, Krista Moyer, Hela Azaiez, Rebecca Mar-Heyming, Richard Smith, Narasimhan Nagan, Christine Lo, Xinhua Hu, Ahmad N. Abou Tayoun, Hyunseok Kang, Sarah E. Hemphill, Cynthia C. Morton, Yan Zhang, Yen-Fu Cheng, Huijun Yuan, Kevin T. Booth, Anne Giersch, Moshe Frydman, Tatsuo Matsunaga, Jun Shen, John H. Greinwald, Tzvi Weiden, Saurav Guha, Ye Cao, Hideki Mutai, Yukun Zeng, Arti Pandya, John J. Alexander, Lina Basel-Salmon, Marina T. DiStefano, Margaret A. Kenna, Zippora Brownstein, Ignacio del Castillo, Kejian Zhang, Bella Davidov, Sami S. Amr, Minjie Luo, Karen B. Avraham, Andrea M. Oza, Mustafa Tekin, Miguel A. Moreno-Pelayo, Heidi L. Rehm
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: ClinGen, Male, Hearing loss, Hearing Loss, Sensorineural, Population, Deafness, Compound heterozygosity, Polymorphism, Single Nucleotide, Article, Connexins, Statistical analyses, otorhinolaryngologic diseases, medicine, Humans, Allele, variant classification, Hearing Loss, education, Alleles, Genetics (clinical), Genetics, education.field_of_study, incomplete penetrance, business.industry, variant interpretation, Expert consensus, medicine.disease, Penetrance, Connexin 26, Case-Control Studies, Mutation, Female, Sensorineural hearing loss, medicine.symptom, business
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المؤلفون: Yoel Hirsch, Devorah Yefet, Anna C. Vardaro, Josef Ekstein, Kevin T. Booth, David P. Corey, Adina Quint, Tzvi Weiden
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: Proband, MYO15A, Hearing loss, Population, genotype-phenotype correlation, QH426-470, Biology, Ashkenazi Jewish, Locus heterogeneity, deafness, otorhinolaryngologic diseases, Genetics, medicine, education, Genetics (clinical), Exome sequencing, hearing loss, education.field_of_study, medicine.disease, Null allele, Targeted Mutation, Molecular Medicine, medicine.symptom, RNA-splicing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6eb6ac3f705be61a4173cf95930a2860
https://doi.org/10.3389/fgene.2021.737782 -
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المؤلفون: Yael Kahan, David A. Zeevi, Sholem Y. Scher, Rinat Benel, Josef Ekstein, Tzvi Weiden, Wendy K. Chung, Yoel Hirsch, Ahron Ekstein, Rachel Bringer, Hagit Muallem, Chaim Levi
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)مصطلحات موضوعية: carrier frequency, congenital, hereditary, and neonatal diseases and abnormalities, premarital genetic screening, animal diseases, Judaism, Population, Genetic Counseling, Premarital Examinations, Disease, QH426-470, Biology, Gene Frequency, Mutation Carrier, Genotype, Genetics, Humans, Allele, education, Molecular Biology, Genetics (clinical), Carrier signal, education.field_of_study, Syrian Jewish, Syria, Genetic Carrier Screening, Genetic Diseases, Inborn, Original Articles, Iranian Jewish, humanities, Jews, Practice Guidelines as Topic, Cohort, Original Article
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المؤلفون: Fumihiko Urano, Rie Asada Kitamura, Kristina Maxwell, Wenjuan Ye, Kelly Kries, Cris Brown, Punn Augsornworawat, Martin Johansson, Joshua Cohen, Justin Klee, Kent Leslie, Anton Simeonov, Joel Hirsch, Tzvi Weiden, Mark Henderson, Jeffrey Millman, Josef Ekstein
المصدر: Genetics in Medicine. 24:S167
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6caadc9c6dcff758065df0a0ada37306
https://doi.org/10.1016/j.gim.2022.01.299 -
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المؤلفون: Serdal Güngör, Benita Grossmann, Bethany Y. Norton, Zubair M. Ahmed, Wendy K. Chung, John Neidhardt, Julie S. Cohen, Elodie Richard, Yoel Hirsch, Jiankang Li, Jozef Gecz, Ralf A. Husain, Saima Riazuddin, Maria J. Guillen Sacoto, Claudia Steen, Andreas Ziegler, G. Christoph Korenke, Dominic Lenz, Mahim Jain, Urania Kotzaeridou, Henry Houlden, Theresa Brunet, Yavuz Oktay, Semra Hiz, Patricia Cornejo, Sheetal Shetty, Alastair H. MacLennan, Nazira Zharkinbekova, Bader Alhaddad, Dani L. Webber, Mary Alice Abbott, Hanns Lochmüller, Rauan Kaiyrzhanov, Melissa Yelton, Cecilia Mancini, Hakon Hakonarson, Amy Crunk, Simona Amenta, Yiran Guo, Jan Kaslin, Clare L. van Eyk, Richard Webster, Arianna Tucci, Alex M. Pagnozzi, Robert B. Hufnagel, Kirsty McWalter, Sandra M. Nordlie, Kaya Bilguvar, Pasquale Striano, Matias Wagner, Florian Kreuder, Lisa Worgan, Ashley P.L. Marsh, Anna Chassevent, Warren A. Marks, James Liu, Brandon S. Guida, Maria Margherita Mancardi, Kelly Harper, Lance H. Rodan, Rhonda E. Schnur, Dianela Judith Claps Sepulveda, Tzvi Weiden, Michele Pinelli, Marion Rapp, Helen Magee, Jesia G. Berry, Aboulfazl Rad, Michael C. Kruer, Mark A. Corbett, Rita Horvath, Constance Smith-Hicks, Joseph Ekstein, Marta Owczarek-Lipska, Somayeh Bakhtiari, Heinrich Sticht, Thomas Meitinger, Anne M. Comi, Alyssa Blesson, Iris Marquardt, Francesca Clementina Radio, Sergio Padilla-Lopez, Giuseppe Marangi, Christine Makowski, Mona Grimmel, Marco Tartaglia, Sheng Chih Jin, Federico Zara, Andreas Hahn, Shrikant Mane, Michael C Fahey, Marcella Zollino, Barbara Vona, Peter D. Turnpenny, Manuela Morleo, Ute Grasshoff, Amber Begtrup, Richard E. Person, Annalaura Torella, Alexander Münchau, Vincenzo Nigro, Reza Maroofian, John Christodoulou, Tobias B. Haack, Vincenzo Salpietro
المساهمون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. -A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., Mcwalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., Maclennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.
المصدر: Am. J. Hum. Genet. 108, 2006-2016 (2021)
Am J Hum Genetمصطلحات موضوعية: Male, Microcephaly, Pathology, Settore MED/03 - GENETICA MEDICA, sensorineural hearing loss, Epilepsy, Neurodevelopmental disorder, sensorineural hearing lo, Genetics (clinical), Allele, ATPases Associated with Diverse Cellular Activitie, medicine.anatomical_structure, Muscle Spasticity, Child, Preschool, Sensorineural hearing loss, Female, movement disorder, medicine.symptom, AAA+ superfamily, Human, Adult, medicine.medical_specialty, Adolescent, Hearing loss, Aaa+ Superfamily, Atpase, Spata5l1, Cerebral Palsy, Intellectual Disability, Movement Disorder, Neurodevelopmental Disorder, Sensorineural Hearing Loss, Biology, Cerebral palsy, White matter, Young Adult, Report, Genetics, medicine, Animals, Humans, ATPase, Genetic Predisposition to Disease, Hearing Loss, SPATA5L1, Hearing Lo, Alleles, cerebral palsy, Periventricular leukomalacia, Animal, Infant, Newborn, Infant, Genetic Variation, medicine.disease, neurodevelopmental disorder, Rats, ATPases Associated with Diverse Cellular Activities, Rat
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1887f7ac3875dcbc64050199115f63ee
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63291