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1دورية أكاديمية
المؤلفون: Catherina T. Pinnaro, Travis Henry, Heather J. Major, Mrutyunjaya Parida, Lucy E. DesJardin, John R. Manak, Benjamin W. Darbro
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
مصطلحات موضوعية: 22q11.2 deletion syndrome, genetic modifiers, immune dysregulation, retinoic acid, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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المصدر: Human Genetics. 142:523-530
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Dawn E. Quelle, Munir R. Tanas, Benjamin W. Darbro, Rebecca D. Dodd, Jill M. Weimer, K.D. Zamba, David K. Meyerholz, Mariah R. Leidinger, Jessica C. Sieren, Rajesh Khanna, Vickie Knepper-Adrian, Kendall E. Cornick, Heather J. Major, Allison Moreno Samayoa, Chandra K. Maharjan, Casey Pulliam, Courtney A. Kaemmer, Jordan L. Kohlmeyer
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920ee80e1af2be68a88f0ab59c9465b2
https://doi.org/10.1158/1078-0432.22475733 -
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المؤلفون: Dawn E. Quelle, Munir R. Tanas, Benjamin W. Darbro, Rebecca D. Dodd, Jill M. Weimer, K.D. Zamba, David K. Meyerholz, Mariah R. Leidinger, Jessica C. Sieren, Rajesh Khanna, Vickie Knepper-Adrian, Kendall E. Cornick, Heather J. Major, Allison Moreno Samayoa, Chandra K. Maharjan, Casey Pulliam, Courtney A. Kaemmer, Jordan L. Kohlmeyer
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30dd56d880240716d96cf8ae8c86d42c
https://doi.org/10.1158/1078-0432.c.6529155 -
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المؤلفون: Dawn E. Quelle, Munir R. Tanas, Benjamin W. Darbro, Rebecca D. Dodd, Jill M. Weimer, K.D. Zamba, David K. Meyerholz, Mariah R. Leidinger, Jessica C. Sieren, Rajesh Khanna, Vickie Knepper-Adrian, Kendall E. Cornick, Heather J. Major, Allison Moreno Samayoa, Chandra K. Maharjan, Casey Pulliam, Courtney A. Kaemmer, Jordan L. Kohlmeyer
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1847e45ac5123d2616c4dc83595c77c3
https://doi.org/10.1158/1078-0432.22475736.v1 -
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المؤلفون: Dawn E. Quelle, Benjamin W. Darbro, James R. Howe, Andrew M. Bellizzi, Thomas M. O'Dorisio, Scott K. Sherman, Ryan W. Askeland, Heather J. Major, Aloysius J. Klingelhutz, Francoise A. Gourronc, Frederick W. Quelle, Agshin F. Taghiyev, Sara M. Reed, Kelly C. Falls, Viviane P. Muniz, Jussara Hagen
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb316efa37fe042ca5e2c480aebbbc9
https://doi.org/10.1158/0008-5472.22404263.v1 -
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المؤلفون: Dawn E. Quelle, Benjamin W. Darbro, James R. Howe, Andrew M. Bellizzi, Thomas M. O'Dorisio, Scott K. Sherman, Ryan W. Askeland, Heather J. Major, Aloysius J. Klingelhutz, Francoise A. Gourronc, Frederick W. Quelle, Agshin F. Taghiyev, Sara M. Reed, Kelly C. Falls, Viviane P. Muniz, Jussara Hagen
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b710410caa0071f21f915ebf926f36c
https://doi.org/10.1158/0008-5472.22404248.v1 -
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المؤلفون: Lucy E. DesJardin, John Robert Manak, Catherina T. Pinnaro, Travis S. Henry, Mrutyunjaya Parida, Heather J. Major, Benjamin W. Darbro
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: 0301 basic medicine, TBX1, 22q11 Deletion Syndrome, lcsh:QH426-470, Retinoic acid, 030105 genetics & heredity, Biology, medicine.disease_cause, Immunophenotyping, 03 medical and health sciences, chemistry.chemical_compound, Immune system, immune dysregulation, retinoic acid, Genetics, medicine, Humans, Nuclear Receptor Co-Repressor 2, Lymphocytes, Molecular Biology, Genetics (clinical), Immunodeficiency, Exome sequencing, Phenocopy, Genes, Modifier, Genetic heterogeneity, Original Articles, genetic modifiers, Immune dysregulation, medicine.disease, 3. Good health, lcsh:Genetics, Phenotype, 030104 developmental biology, chemistry, 22q11.2 deletion syndrome, Immunology, Original Article, E1A-Associated p300 Protein
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المؤلفون: Nigel C. Jones, David Goldstein, Michael S. Hildebrand, John A. Damiano, John F. Kerrigan, Ezgi Ozturk, Benjamin W. Darbro, Erin L. Heinzen, Lynette G. Sadleir, Nicole G. Griffin, Heather J. Major, Rosemary Burgess, Jeremy L. Freeman, Richard J. Leventer, Andrew S. Allen, A. Simon Harvey, Ingrid E. Scheffer, Samuel F. Berkovic, Elisa J. Cops
المصدر: The American Journal of Human Genetics. 99:423-429
مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, animal structures, Hamartoma, Kruppel-Like Transcription Factors, Loss of Heterozygosity, Nerve Tissue Proteins, Zinc Finger Protein Gli2, 03 medical and health sciences, 0302 clinical medicine, Hypothalamic hamartoma, Zinc Finger Protein Gli3, Report, GLI2, GLI3, Genetics, Humans, Exome, Hedgehog Proteins, Genetics(clinical), Sonic hedgehog, Genetics (clinical), Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, biology, Wnt signaling pathway, Nuclear Proteins, CREB-Binding Protein, Hedgehog signaling pathway, 3. Good health, PRKACA, 030104 developmental biology, Mutation, embryonic structures, Cancer research, biology.protein, Female, Epilepsies, Partial, Hypothalamic Diseases, 030217 neurology & neurosurgery, Signal Transduction
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المؤلفون: Benjamin W. Darbro, Michael S. Hildebrand, Leanne M. Dibbens, Heather C Mefford, Susannah T. Bellows, Samuel F. Berkovic, Saul A. Mullen, Ingrid E. Scheffer, Todor Arsov, Kate M. Lawrence, John A. Damiano, Heather J. Major, Hans Henrik M. Dahl
المساهمون: Damiano, John A, Mullen, Saul A, Hildebrand, Michael S, Bellows, Susannah T, Lawrence, Kate M, Arsov, Todor, Dibbens, Leanne, Major, Heather, Dahl, Hans-Henrik M, Mefford, Heather C, Darbro, Benjamin W, Scheffer, Ingrid E, Berkovic, Samuel F
المصدر: Epilepsy Research. 117:70-73
مصطلحات موضوعية: Male, Proband, medicine.medical_specialty, DNA Copy Number Variations, alpha7 Nicotinic Acetylcholine Receptor, Epilepsy, symbols.namesake, Gene Frequency, Molecular genetics, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Copy-number variation, Allele, Alleles, Sanger sequencing, Chromosomes, Human, Pair 15, Polymorphism, Genetic, biology, CHRNA7, Complex traits, medicine.disease, Pedigree, Epilepsy and seizures, Neurology, Genetic Loci, biology.protein, symbols, Epilepsy, Generalized, Female, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb56cb908cad5258ba8e462cbe6d61b4
https://doi.org/10.1016/j .eplepsyres.2015.09.007