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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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المؤلفون: Rachel Rabin, Yoel Hirsch, Ahron Ekstein, Martin Johansson, Joseph Ekstein, John Pappas
المصدر: American Journal of Medical Genetics Part A. 185:1589-1597
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, education.field_of_study, TRNA modification, Microcephaly, Ataxia, Cerebellar ataxia, business.industry, Population, Mitochondrial tRNA modification, Compound heterozygosity, medicine.disease, medicine, medicine.symptom, education, business, Cerebellar hypoplasia, Genetics (clinical)
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المؤلفون: Martin Johansson, David A. Zeevi, Yoel Hirsch, Joseph Ekstein, Elaine H. Zackai, John Pappas, Beth Keena, Rachel Rabin
المصدر: American Journal of Medical Genetics Part A. 179:2144-2151
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, Adolescent, RNA Splicing, Population, 030105 genetics & heredity, Biology, Frameshift mutation, Young Adult, 03 medical and health sciences, DDX11, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Child, education, Gene, Genetics (clinical), education.field_of_study, Base Sequence, Infant, Newborn, Infant, Syndrome, medicine.disease, Hypoplasia, Phenotype, 030104 developmental biology, Child, Preschool, Jews, Female, Sensorineural hearing loss
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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 -
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المؤلفون: Milen Velinov, Kai Wang, Sholem Y. Scher, Edward Yang, Ricardo Madrid, Ilana Chilton, Elaine Marchi, Vardiella Meiner, Darryl C. De Vivo, Quan Li, Andrea Haworth, Wendy K. Chung, Yoel Hirsch, Gholson J. Lyon, Joseph Ekstein
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurodegeneration with brain iron accumulation, Genetic heterogeneity, business.industry, Striatonigral Degeneration, Retinal, General Medicine, Disease, medicine.disease, chemistry.chemical_compound, Globus pallidus, moderate global developmental delay, chemistry, Retinitis pigmentosa, Medicine, business, Rapid Communication, retinitis pigmentosa inversa, Retinitis pigmentosa inversa
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cec7b1d8e08883e4b55f6ac82abf7ed
https://doi.org/10.1101/mcs.a003715 -
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المؤلفون: Akemi J. Tanaka, Yuichi Abe, Yoel Hirsch, Joseph Ekstein, Shigehiko Tamura, Kanji Okumoto, Yukio Fujiki, Wendy K. Chung, Liyong Deng
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: 0301 basic medicine, Mutation, Missense, Biology, Young Adult, 03 medical and health sciences, sensorineural hearing impairment, 0302 clinical medicine, Peroxisomes, very long chain fatty acid accumulation, Humans, Missense mutation, Amino Acid Sequence, Hearing Loss, Zellweger Syndrome, Protein Stability, Thiolase, Membrane Proteins, Lipid metabolism, Sequence Analysis, DNA, Syndrome, General Medicine, Peroxisome, Peroxisomal Targeting Signal 2 Receptor, Molecular biology, Pedigree, 030104 developmental biology, ATPases Associated with Diverse Cellular Activities, Female, PEX1, 030217 neurology & neurosurgery, PEX6, Immunostaining, Research Article, Protein Binding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cf4dfe864f66e0a0f0a3c7a30a404d
https://doi.org/10.1101/mcs.a003483 -
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المؤلفون: Gregory J. Hannon, Joseph Ekstein, Alan L. Shanske, Orly Elpeleg, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Simon Edvardson, John M. Gomori
المصدر: The American Journal of Human Genetics. 86:93-97
مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Ataxia, Adolescent, DNA Mutational Analysis, Corpus callosum, Joubert syndrome, Report, Genetics, Humans, Medicine, Genetics(clinical), Oculomotor apraxia, Child, Alleles, Genetics (clinical), Psychomotor retardation, business.industry, Homozygote, Brain, Infant, Syndrome, Disease gene identification, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Ashkenazi jews, Child, Preschool, Jews, Mutation, Nervous System Diseases, Erratum, medicine.symptom, business
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المؤلفون: Ram, Mor, Igal, Kushnir, Jean-Jacques, Meyer, Joseph, Ekstein, Issahar, Ben-Dov
المصدر: Respiratory care. 52(12)
مصطلحات موضوعية: Male, Pleural Effusion, Auscultation, Humans, Female, Pneumonia, Israel, Middle Aged, Aged, Respiratory Sounds
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b843db183ab6904d18e5dd67c83999bf
https://pubmed.ncbi.nlm.nih.gov/18028567 -
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المؤلفون: Gideon Bach, Michael Webb, Joseph Ekstein, Marcia Zeigler, Ruth Bargal
المصدر: Human mutation. 26(6)
مصطلحات موضوعية: Heterozygote, Population, Mutation, Missense, TRPM Cation Channels, Biology, Transient Receptor Potential Channels, Gene Frequency, Mucolipidoses, Genetics, medicine, Missense mutation, Humans, Genetic Testing, Mutation frequency, Israel, education, Allele frequency, Genetics (clinical), Sequence Deletion, education.field_of_study, Base Sequence, Mucolipidosis, medicine.disease, Ashkenazi jews, Founder Effect, Europe, Codon, Nonsense, Jews, Female, Mucolipidosis type IV, Founder effect
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المؤلفون: Elyezer Rubinstein, Dvorah Abeliovich, Adina Quint, Galia Verchezon, Joseph Ekstein, Israela Lerer, Neomi Weinberg
المصدر: European journal of human genetics : EJHG. 4(6)
مصطلحات موضوعية: Genetics, Male, education.field_of_study, Adolescent, Cystic Fibrosis, business.industry, Judaism, Genetic Carrier Screening, Population, Heterozygote advantage, medicine.disease, Cystic fibrosis, Ashkenazi jews, Gene Frequency, Jews, Medicine, Humans, Female, Genetic Testing, business, ΔF508, education, Genetics (clinical), Medical genetics of Jews
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6e5e4355c6fd26741730d165b5df38a
https://pubmed.ncbi.nlm.nih.gov/9043867