المؤلفون: C. L. Yauk, M. J. Aardema, J. V. Benthem, J. B. Bishop, K. L. Dearfield, D. M. DeMarini, Yuri Eugenjevitch Dubrova, M. Honma, J. R. Lupski, F. Marchetti, M. L. Meistrich, F. Pacchierotti, J. Stewart, M. D. Waters, G. R. Douglas

مصطلحات موضوعية: Uncategorized, Chromosome aberrations, Copy number variants, Gene, Genetic disease, Germ cell mutation, Reproductive health, mutation, Animals, DNA Mutational Analysis, Education, Genome-Wide Association Study, Germ Cells, Germ-Line Mutation, High-Throughput Nucleotide Sequencing, Humans, Mutagenicity Tests, Mutagens, Risk Assessment

العلاقة: 2381/36786; https://figshare.com/articles/journal_contribution/Approaches_for_identifying_germ_cell_mutagens_Report_of_the_2013_IWGT_workshop_on_germ_cell_assays_/10147772Test

الإتاحة: https://figshare.com/articles/journal_contribution/Approaches_for_identifying_germ_cell_mutagens_Report_of_the_2013_IWGT_workshop_on_germ_cell_assays_/10147772Test

المؤلفون: Tomasz Gambin, Elżbieta Ciara, Donna M. Muzny, D.L. Guilbride, Magdalena Pelc, Pawel Gawlinski, Zeynep Coban-Akdemir, Małgorzata Krajewska-Walasek, J. R. Lupski, Elżbieta Jurkiewicz, Shalini N. Jhangiani, Agnieszka Różdżyńska-Świątkowska, Mateusz Dawidziuk

المصدر: Clinical Genetics. 93:919-924

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, PDGFRB, Scoliosis, 030105 genetics & heredity, Receptor, Platelet-Derived Growth Factor beta, 03 medical and health sciences, Camptodactyly, PDGFRB Gene Mutation, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Child, Genetic Association Studies, Genetics (clinical), business.industry, Macrocephaly, High-Throughput Nucleotide Sequencing, Ectropion, medicine.disease, Megalencephaly, Musculoskeletal Abnormalities, Phenotype, 030104 developmental biology, Long palpebral fissure, Child, Preschool, Mutation, Cohort, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd9236c8348f6dce7fac57ea438b7010Test
https://doi.org/10.1111/cge.13192Test

المؤلفون: A. P. Erdem, Donna M. Muzny, J. R. Lupski, Nuriye Dinckan, Ingrid S. Paine, Lauren E. Petty, Evan H. Baugh, Harshavardhan Doddapaneni, Hülya Kayserili, Jianhong Hu, Zehra Oya Uyguner, Shalini N. Jhangiani, Eric Boerwinkle, Renqian Du, Ariadne Letra, Richard A. Gibbs, Jennifer E. Below, Zeynep Coban-Akdemir

المصدر: Journal of Dental Research. 97:49-59

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Turkey, Genetic Linkage, Mutation, Missense, Biology, Real-Time Polymerase Chain Reaction, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Genetic linkage, Exome Sequencing, Humans, Missense mutation, Indel, General Dentistry, Gene, Genotyping, Exome sequencing, Anodontia, Genetics, Genetic Variation, Membrane Proteins, Research Reports, Oligogenic Inheritance, 030206 dentistry, Pedigree, Wnt Proteins, stomatognathic diseases, 030104 developmental biology, Low Density Lipoprotein Receptor-Related Protein-6, Intercellular Signaling Peptides and Proteins, Female, Laminin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ff1dd1208e2a254f032f37fbf9967aTest
https://doi.org/10.1177/0022034517724149Test

المؤلفون: R A Britton, B S Powell, D L Court, J R Lupski, J. Bacteriol, Robert A. Britton, Bradford S. Powell, Donald L. Court, James, R. Lupski

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://jb.asm.org/content/179/14/4575.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.336.1123Test; http://jb.asm.org/content/179/14/4575.full.pdfTest

الإتاحة: http://jb.asm.org/content/179/14/4575.full.pdfTest

المؤلفون: J. Clin Microbiol, H K Crouch, J R Lupski, V G Del Vecchio, J M Petroziello, M J Gress, F K Mccleskey, Gregory P. Melcher, Helen K. Crouch, James R. Lupski

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://jcm.asm.org/content/33/8/2141.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.600.75Test; http://jcm.asm.org/content/33/8/2141.full.pdfTest

الإتاحة: http://jcm.asm.org/content/33/8/2141.full.pdfTest

المؤلفون: Marwan Shinawi, Claudia M.B. Carvalho, R. Mark Grady, Shashikant Kulkarni, J. R. Lupski, Marisa Vineyard, Joshua C. Euteneuer

المصدر: Clinical Genetics. 86:487-491

مصطلحات موضوعية: Genetics, Copy-number variation, Biology, Allele, Chromosome breakage, Gene, Phenotype, Penetrance, Genetics (clinical), Human genetics, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5af918626608e35fc413279ab343fe6fTest
https://doi.org/10.1111/cge.12305Test

المؤلفون: G. Trivellin, A. F. Daly, F. R. Faucz, B. Yuan, L. Rostomyan, D. O. Larco, M. H. Schernthaner Reiter, E. Szarek, L. F. Leal, J. H. Caberg, E. Castermans, C. Villa, A. Dimopoulos, P. Chittiboina, P. Xekouki, N. Shah, D. Metzger, P. A. Lysy, E. Ferrante, N. Strebkova, N. Mazerkina, M. Lodish, A. Horvath, R. B. de Alexandre, A. D. Manning, I. Levy, M. F. Keil, L. Sierra Mde, L. Palmeira, W. Coppieters, M. Georges, L. A. Naves, M. Jamar, V. Bours, T. J. Wu, C. S. Choong, J. Bertherat, P. Chanson, P. Kamenický, W. E. Farrell, A. Barlier, M. Quezado, I. Bjelobaba, S. S. Stojilkovic, J. Wess, S. Costanzi, P. Liu, J. R. Lupski, A. Beckers, C. A. Stratakis, ZATELLI, Maria Chiara

المساهمون: G., Trivellin, A. F., Daly, F. R., Faucz, B., Yuan, L., Rostomyan, D. O., Larco, M. H., Schernthaner Reiter, E., Szarek, L. F., Leal, J. H., Caberg, E., Casterman, C., Villa, A., Dimopoulo, P., Chittiboina, P., Xekouki, N., Shah, D., Metzger, P. A., Lysy, E., Ferrante, N., Strebkova, N., Mazerkina, Zatelli, Maria Chiara, M., Lodish, A., Horvath, R. B., de Alexandre, A. D., Manning, I., Levy, M. F., Keil, L., Sierra Mde, L., Palmeira, W., Coppieter, M., George, L. A., Nave, M., Jamar, V., Bour, T. J., Wu, C. S., Choong, J., Bertherat, P., Chanson, P., Kamenický, W. E., Farrell, A., Barlier, M., Quezado, I., Bjelobaba, S. S., Stojilkovic, J., We, S., Costanzi, P., Liu, J. R., Lupski, A., Becker, C. A., Stratakis

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000346425800005; volume:371; issue:25; firstpage:2363; lastpage:2374; numberofpages:12; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11392/2278014Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919360657

الإتاحة: https://doi.org/10.1056/NEJMoa1408028Test
http://hdl.handle.net/11392/2278014Test

المؤلفون: A. F. Daly, B. Yuan, F. Fina, J. Caberg, G. Trivellin, L. Rostomyan, W. W. De Herder, L. A. Naves, D. Metzger, T. Cuny, W. Rabl, N. Shah, M. Jaffrain Rea, M. Chiara Zatelli, F. R. Faucz, E. Castermans, I. Nanni Metellus, M. Lodish, A. Muhammad, L. Palmeira, I. Potorac, S. J. Neggers, M. Klein, A. Barlier, P. Liu, L. Ouafik, V. Bours, J. R. Lupski, C. A. Stratakis, A. Beckers, G. Mantovani

المساهمون: A.F. Daly, B. Yuan, F. Fina, J. Caberg, G. Trivellin, L. Rostomyan, W.W. De Herder, L.A. Nave, D. Metzger, T. Cuny, W. Rabl, N. Shah, M. Jaffrain-Rea, M. Chiara Zatelli, F.R. Faucz, E. Casterman, I. Nanni-Metellu, M. Lodish, A. Muhammad, L. Palmeira, I. Potorac, G. Mantovani, S.J. Negger, M. Klein, A. Barlier, P. Liu, L. Ouafik, V. Bour, J.R. Lupski, C.A. Strataki, A. Beckers

مصطلحات موضوعية: gigantism, molecular genetic, mosaicism, pituitary, X-LAG syndrome, endocrinology, diabetes and metabolism, oncology, cancer research, Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26935837; info:eu-repo/semantics/altIdentifier/wos/WOS:000377691700005; volume:23; issue:4; firstpage:221; lastpage:233; numberofpages:13; journal:ENDOCRINE-RELATED CANCER; http://hdl.handle.net/2434/456343Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84976902872

الإتاحة: https://doi.org/10.1530/ERC-16-0082Test
http://hdl.handle.net/2434/456343Test

المؤلفون: Matthew N. Bainbridge, Richard A. Gibbs, Murdock, Donna M. Muzny, J. R. Lupski, Yuan Qing Wu, Neil A. Hanchard, Chester W. Brown, Min Wang, Amy L. McGuire, Pilar L. Magoulas

المصدر: Clinical Genetics. 83:457-461

مصطلحات موضوعية: Proband, Genetics, Pediatrics, medicine.medical_specialty, Muscle weakness, Biology, medicine.disease, Hypotonia, Paroxysmal dystonia, Hypokalemic periodic paralysis, medicine, Differential diagnosis, medicine.symptom, Exome, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b3ae9bac76d25661e8fec766181563d9Test
https://doi.org/10.1111Test/j.1399-0004.2012.01951.x

المؤلفون: Asbjørg Stray-Pedersen, G. Yoon, K. Aslaksen, C. van Karnebeek, Wen Qin, Maja Tarailo-Graovac, Dejian Ren, Trine Prescott, Thorsten Gerstner, J. R. Lupski, S. Ahmed, Marielle Alders, Shalini N. Jhangiani, Jan-Maarten Cobben, Chunlei Cang, Donna M. Muzny, Sora Lee, Taila Hartley, Martine Tétreault, Kimberly Aranda

المصدر: Neuromuscular Disorders. 26:S197-S198

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Growth retardation, business.industry, Muscle weakness, medicine.disease, Hypotonia, Neurology, Pediatrics, Perinatology and Child Health, Intellectual disability, Medicine, Neurology (clinical), medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8676f2ddf15e159dedb32c26ee3ac9adTest
https://doi.org/10.1016Test/j.nmd.2016.06.403