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1دورية أكاديمية
المؤلفون: Chris D. Balak, Jesse M. Hunter, Mary E. Ahearn, David Wiley, Gennaro D'urso, Lisa Baumbach-Reardon
المصدر: F1000Research, Vol 6 (2017)
مصطلحات موضوعية: Control of Gene Expression, Medical Genetics, Medicine, Science
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: David J. Wiley, Ilona Juan, Hao Le, Xiaodong Cai, Lisa Baumbach, Christine Beattie, Gennaro D'Urso
المصدر: F1000Research, Vol 3 (2014)
مصطلحات موضوعية: Genomics, Medical Genetics, Methods for Diagnostic & Therapeutic Studies, Medicine, Science
وصف الملف: electronic resource
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المؤلفون: Alvaro N.A. Monteiro, Paolo Radice, Fergus J. Couch, David Goldgar, Andrej Sali, Katherine L. Nathanson, Jennifer L. Pickard-Brzosowicz, Rebecca Sutphen, Lisa Baumbach, Luis Gayol, Rosane Silva, Edson Rondinelli, Turan P. Urmenyi, Ramona F. Swaby, Scott Grist, Siranoush Manoukian, Rachel Karchin, Sylvia M. Marsillac, Marcelo A. Carvalho
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ce0036825ece5365bf7d68660751d0
https://doi.org/10.1158/0008-5472.22365647 -
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المؤلفون: Alvaro N.A. Monteiro, Paolo Radice, Fergus J. Couch, David Goldgar, Andrej Sali, Katherine L. Nathanson, Jennifer L. Pickard-Brzosowicz, Rebecca Sutphen, Lisa Baumbach, Luis Gayol, Rosane Silva, Edson Rondinelli, Turan P. Urmenyi, Ramona F. Swaby, Scott Grist, Siranoush Manoukian, Rachel Karchin, Sylvia M. Marsillac, Marcelo A. Carvalho
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24fa242ae6438f98342595e9d819befa
https://doi.org/10.1158/0008-5472.c.6494798.v1 -
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المؤلفون: David J. Wiley, Mary Ellen Ahearn, Gennaro D'Urso, Jesse M. Hunter, Lisa Baumbach-Reardon, Chris Balak
المصدر: F1000Research
مصطلحات موضوعية: 0301 basic medicine, Biology, ubiquitination, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Ubiquitin, disease mechanisms, medicine, Missense mutation, General Pharmacology, Toxicology and Pharmaceutics, Gene, UBA1, Genetics, X-linked spinal muscular atrophy, General Immunology and Microbiology, Wild type, General Medicine, Spinal muscular atrophy, Articles, medicine.disease, 030104 developmental biology, RNA splicing, Immunology, Splicing factor binding, biology.protein, SMAX2, Medical Genetics, ubiquitin proteasome system, Research Article, Control of Gene Expression
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المؤلفون: Ahmet Kurdoglu, Daphne E. deMello, John D. Carpten, Megan Russell, Matthew J. Huentelman, Lisa Baumbach-Reardon, Chris Balak, Saunder Bernes, Winnie S. Liang, Jason J. Corneveaux, Mary Ellen Ahearn, Judith G. Hall, David Craig, Jesse M. Hunter, Stephen W. Coons
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: muscular dystrophy, Disease, Bioinformatics, EMD, RYR1, Genetics, Medicine, COL6A3, Muscular dystrophy, COL6A6, Myopathy, Molecular Biology, Exome, Genetics (clinical), Exome sequencing, Genetic testing, Arthrogryposis, CACNA1S, medicine.diagnostic_test, business.industry, Original Articles, medicine.disease, medicine.symptom, business, central core disease, exome, Central core disease, myopathy
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المؤلفون: Lisa Baumbach-Reardon, Chris Balak, Jesse M. Hunter, Mary Ellen Ahearn, Judith G. Hall, Jeff Kiefer, Sonya Jooma
المصدر: American Journal of Medical Genetics Part A. 167:931-973
مصطلحات موضوعية: Arthrogryposis, Genetics, Contracture, Arthrogryposis multiplex congenita, business.industry, Genetic Diseases, X-Linked, Spinal muscular atrophy, Gene mutation, medicine.disease, Pedigree, Muscular Atrophy, Spinal, Muscular Diseases, Mutation, Humans, Medicine, Identification (biology), Family history, medicine.symptom, business, Myopathy, Metabolic Networks and Pathways, Genetics (clinical), Muscle contracture
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8
المؤلفون: Lisa Baumbach, Klaus P. Jantke, Susanne Friedemann
المصدر: Communications in Computer and Information Science ISBN: 9783319295848
CSEDU (Selected Papers)مصطلحات موضوعية: Matching (statistics), Multimedia, Digital material, business.industry, Computer science, Instructional design, Flourishing, Lifelong learning, computer.software_genre, Digital media, Game design, ComputingMilieux_COMPUTERSANDEDUCATION, business, computer, Rate of growth
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7d4a01c9fef560ac971d40b7e740bc4d
https://doi.org/10.1007/978-3-319-29585-5_24 -
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المؤلفون: Alleene V. Strickland, Michela D’Aloia, Michael A. Gonzalez, Jia Huang, Mark T. Rogers, James W. Connell, Ludger Schöls, Stephan Züchner, Hiroyuki Ishiura, Gladys Montenegro, Lisa Baumbach-Reardon, Shoji Tsuji, Jeffery M. Vance, Justin Price, Tine Deconinck, Margaret A. Pericak-Vance, Carla Babalini, Pasqua Montieri, Rachel Allison, Giorgio Bernardi, Rebecca Schüle, Adriana P. Rebelo, Antonio Orlacchio, Evan Reid, Peter De Jonghe
المصدر: The journal of clinical investigation
The Journal of clinical investigation 122 (2012): 538–544. doi:10.1172/JCI60560
info:cnr-pdr/source/autori:Montenegro G.; Rebelo A.P., Connell J.; Allison R.; Babalini C.; D'Aloia M.; Montieri P.; Schüle R.; Ishiura H.; Price J.; Strickland A.; Gonzalez M.A.; Baumbach-Reardon L.; Deconinck T.; Huang J.; Bernardi G.; Vance J.M.; Rogers M.T.; Tsuji S.; De Jonghe P.; Pericak-Vance M.A.; Schöls L.; Orlacchio A.; Reid E.; Züchner S./titolo:Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12/doi:10.1172%2FJCI60560/rivista:The Journal of clinical investigation/anno:2012/pagina_da:538/pagina_a:544/intervallo_pagine:538–544/volume:122
The journal of clinical investigation 122(2), 538-544 (2012). doi:10.1172/JCI60560مصطلحات موضوعية: pathology [Spastic Paraplegia, Hereditary], Spastin, Settore MED/09 - Medicina Interna, DNA Mutational Analysis, Muscle Proteins, genetics [Muscle Proteins], Endoplasmic Reticulum, medicine.disease_cause, metabolism [Endoplasmic Reticulum], Spastic Paraplegia, genetics [Nerve Tissue Proteins], Exome sequencing, Adenosine Triphosphatases, Genetics, Mutation, Medicine (all), General Medicine, genetics [Adenosine Triphosphatases], genetics [Membrane Proteins], Hereditary, Research Article, Hereditary spastic paraplegia, ultrastructure [Endoplasmic Reticulum], metabolism [Muscle Proteins], Nerve Tissue Proteins, Biology, HeLa Cells, Humans, HEK293 Cells, Spastic Paraplegia, Hereditary, Membrane Proteins, Frameshift mutation, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], RTN2 protein, human, SPAST protein, human, medicine, ddc:610, Gene, metabolism [Nerve Tissue Proteins], medicine.disease, Membrane protein, Reticulon, Human medicine, metabolism [Adenosine Triphosphatases], metabolism [Membrane Proteins]
وصف الملف: pdf
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المؤلفون: Richard D. Kennedy, Lisa Baumbach, Mary Ellen Ahearn, J ODonnel, Steve Deharo, Jim Yan, F. A. McDyer, T Halsey, Mark D. Pegram, M. Jorda, C. Gomez
المصدر: Cancer Research. 70:P4-08
مصطلحات موضوعية: Cancer Research, Cancer, Computational biology, Biology, medicine.disease, Gene expression profiling, Breast cancer, Oncology, Gene expression, Gene chip analysis, medicine, ERBB2 Gene Amplification, RNA extraction, Triple-negative breast cancer
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::41adc174726944b6d0f400902e61c914
https://doi.org/10.1158/0008-5472.sabcs10-p4-08-12
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