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1دورية أكاديمية
المؤلفون: Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1302-1309 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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2دورية أكاديمية
المؤلفون: Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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المؤلفون: Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C. Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G. W. Lidov, Andrew L. Mammen, Josep M. Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S. Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito
المصدر: Acta Neuropathologica. 145:479-496
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine
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4Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
المؤلفون: Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee
المصدر: The American Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c499b888e214073eb018b6346f98d839
https://doi.org/10.1016/j.ajhg.2023.04.006 -
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المؤلفون: Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang
المساهمون: Molecular Genetics
المصدر: Pediatric Neurology, 141, 79-86. Elsevier Inc.
مصطلحات موضوعية: Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical)
وصف الملف: application/pdf
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المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn
المصدر: The American Journal of Human Genetics
Am J Hum Genetمصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30b
https://doi.org/10.1016/j.ajhg.2021.03.020 -
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المؤلفون: Craig Thorburn, Joanna Alfaro-Shigueto, CG Wilke, Matias Braccini, Craig D. H. Sherman, Mahmood S. Shivji, Christine C. Bruels, Charlene da Silva, Alejo Joaquin Irigoyen, Adam D. Miller, Jeffrey C. Mangel, David A. Ebert, Sebastian Schmidt-Roach, Juan M. Ezcurra, Clinton A. J. Duffy, Alicia C. J. Schmidt-Roach, Adam Barnett, A. J. Jaureguizar
المصدر: Reviews in Fish Biology and Fisheries. 31:433-447
مصطلحات موضوعية: 0106 biological sciences, education.field_of_study, food.ingredient, Ecology, 010604 marine biology & hydrobiology, Lineage (evolution), Population, Broadnose sevengill shark, Aquatic Science, Biology, biology.organism_classification, 010603 evolutionary biology, 01 natural sciences, Phylogeography, food, Genetic structure, Vicariance, education, Notorynchus, Apex predator
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المؤلفون: Kimia Kahrizi, Tomáš Mráček, Hector Diaz-Maldonado, Maria Falkenberg, Safoora B. Syeda, Penelope E. Bonnen, Stanislav Kmoch, Peter B. Kang, Zuzana Korandová, Emily Hoberg, Bradley Peter, Lauren Brady, K. Nicole Weaver, Louis M. Kunkel, Alena Pecinová, Mark A. Tarnopolsky, Zsolt Szilagyi, Hossein Najmabadi, Meenakshi Singh, Ewen W. Sommerville, Sasigarn A. Bowden, Elicia Estrella, Kim L. McBride, Hans-Hilger Ropers, Grainne S. Gorman, Emma L. Blakely, Claes M. Gustafsson, Viktor Stránecký, Christine C. Bruels, Monika Oláhová, Sander Pajusalu, Carlos E. Prada, Jack J Collier, Katrin Õunap, Lynn Pais, Hana Hartmannová, Monica H. Wojcik, Robert W. Taylor, Anthony J. Bleyer
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communicationsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mitochondrial DNA, Adolescent, Transcription, Genetic, POLRMT, Science, General Physics and Astronomy, Biology, DNA, Mitochondrial, Article, Oxidative Phosphorylation, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Protein Domains, Transcription (biology), RNA polymerase, Genetics, Humans, RNA, Messenger, Child, Polymerase, Multidisciplinary, Massive parallel sequencing, Molecular medicine, Infant, DNA-Directed RNA Polymerases, General Chemistry, Fibroblasts, Phenotype, Mitochondria, Pedigree, Protein Subunits, 030104 developmental biology, Neurology, chemistry, Mutation, biology.protein, Female, Nervous System Diseases, 030217 neurology & neurosurgery, DNA, Neuroscience
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المؤلفون: A. Nascimento, C. Bruels, A. Codina, J. Milisenda, C. Li, L. Carrera-García, E. Estrella, J. Pijuan, J. Expósito-Escudero, S. Stafki, L. Martorell, H. Lidov, C. Ortez, F. Palau, B. Darras, C. Jou, L. Kunkel, J. Hoenicka, P. Kang, D. Natera-de Benito
المصدر: Neuromuscular Disorders. 32:S113
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
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المؤلفون: Bruno Lopes da Silva Ferrette, Mahmood S. Shivji, Cesar Martins, Danillo Pinhal, Christine C. Bruels, Otto Bismarck Fazzano Gadig, Rodrigo Rodrigues Domingues
المساهمون: Universidade Estadual Paulista (Unesp), Universidade Federal de São Paulo (UNIFESP), Nova Southeastern University, Universidade Santa Cecília - UNISANTA
المصدر: Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESPمصطلحات موضوعية: 0106 biological sciences, Sphyrna lewini, Genetic diversity, education.field_of_study, biology, 010604 marine biology & hydrobiology, Population, Zoology, Aquatic Science, biology.organism_classification, Genetic connectivity, 010603 evolutionary biology, 01 natural sciences, Endangered species, Gene flow, Effective population size, Hammerhead shark, Genetic structure, elasmobranch conservation, education, Isolation by distance
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18469cdc7023bf4c409c33d38971c1db