المؤلفون: Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis

المصدر: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-2 (2024)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-5876Test

الوصول الحر: https://doaj.org/article/7330cbbda97649539c05138a79d450aaTest

المؤلفون: Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis

المصدر: Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Rare disease, Undiagnosed disease, Individualized medicine, Genomics, Genetic counseling, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-5876Test

الوصول الحر: https://doaj.org/article/379d322058a142068b8b67a35317dec9Test

المؤلفون: Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga

المصدر: Genetics in Medicine. 25:100359

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Multivariate analysis, business.industry, Translational research, Genomics, Disease, 030105 genetics & heredity, Omics, Undiagnosed Diseases, Translational Research, Biomedical, 03 medical and health sciences, 030104 developmental biology, Phenotype, Exome Sequencing, Medicine, Humans, Exome, Personalized medicine, Genetic Testing, business, Exome sequencing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed701e7ad61196d0260a02ac5deae04aTest
https://doi.org/10.1016/j.gim.2022.12.006Test

المؤلفون: Michael T. Zimmermann, Karl J. Clark, Sarah A. Kroc, Ashley N. Sigafoos, Pavel N. Pichurin, Eric W. Klee, Nicole L. Bertsch, Filippo Vairo, Nikita R. Dsouza, Han B. Lee

المصدر: Thrombosis Research. 195:187-189

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Protein Z, Hematology, Livedo racemosa, Thrombophilia, medicine.disease, Dermatology, medicine, Humans, medicine.symptom, business, Livedo Reticularis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e82acc169bdc259c2d85bbe197f1ed5bTest
https://doi.org/10.1016/j.thromres.2020.07.014Test

المؤلفون: Vonda Wall, Sara Klennert, Carolyn Klampe, Clarissa Polen-De, Sarah A. Kroc, Megan Grudem, Kandelaria M. Rumilla, Amanika Kumar, Myra J. Wick, Casey L. Swanson

المصدر: Gynecologic Oncology. 162:S185-S186

مصطلحات موضوعية: Oncology, medicine.medical_specialty, medicine.diagnostic_test, Referral, Somatic cell, business.industry, Medical record, Obstetrics and Gynecology, Germline, Germline mutation, Internal medicine, PARP inhibitor, medicine, business, Genetic testing, Patient education

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cc41a5079339600651b8c86b2f2008c5Test
https://doi.org/10.1016/s0090-8258Test(21)00999-9

المؤلفون: Mekonen Eshete, Bryan C. Bjork, Irfan Saadi, Jennifer Standley, Nathan R. Wilson, Brian C. Schutte, Nagato Natsume, Jeffrey C. Murray, Dusica Babovic-Vuksanovic, Sarah A. Kroc, Tamara Busch, Akihiro Mori, Everett G. Hall, Laura Schultz-Rogers, Eric W. Klee, Jeremy P. Goering, Wasiu Lanre Adeyemo, Diana S. Acevedo, Masaaki Ito, Satoshi Suzuki, Hideto Imura, Sraavya S. Undurty-Akella, Eno Abasi Augustine-Akpan, Luke W. Wenger, Youssef A. Kousa, Azeez Butali, Lenore Pitstick, Shahnawaz Paroya

المصدر: Hum Mol Genet

مصطلحات موضوعية: 0301 basic medicine, Calponin, Mutant, Compound heterozygosity, Adherens junction, 03 medical and health sciences, Mice, 0302 clinical medicine, Genetics, Animals, Humans, Allele, Molecular Biology, Gene, Genetics (clinical), Mice, Knockout, biology, Heterozygote advantage, General Medicine, Phosphoproteins, Molecular biology, Cleft Palate, Mice, Inbred C57BL, 030104 developmental biology, Interferon Regulatory Factors, Mutation, biology.protein, IRF6, Female, General Article, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0444ea6016318afa546a9ba969377a2Test
https://pubmed.ncbi.nlm.nih.gov/31943082Test