المؤلفون: Megumi Leung, Meredith Sanchez-Castillo, Newell Belnap, Marcus Naymik, Anna Bonfitto, Jennifer Sloan, Katie Hassett, Wayne M. Jepsen, Aravind Sankaramoorthy, Tracy Murray Stewart, Jackson R. Foley, Sampathkumar Rangasamy, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey

المصدر: Rare, Vol 2, Iss , Pp 100017- (2024)

مصطلحات موضوعية: Snyder-Robinson syndrome, Spermine synthase, Spermidine, Spermine, Osteoporosis, Seizures, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2950008723000170; https://doaj.org/toc/2950-0087

URL الوصول: https://doaj.org/article/91170d3a24f34cd9ab844a768414c5ec

المؤلفون: Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik, Meredith Sanchez‐Castillo, David W. Craig, Szabolcs Szelinger, Matthew J. Huentelman, Vinodh Narayanan, Sampath Rangasamy

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 2, Pp n/a-n/a (2022)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/e6b7818630924806a65e2e80cd8dda6c

المؤلفون: Wayne M. Jepsen, Andrew Fazenbaker, Keri Ramsey, Anna Bonfitto, Marcus Naymik, Bryce Turner, Jennifer Sloan, Nishant Tiwari, Saunder M. Bernes, Derek E. Neilson, Meredith Sanchez-Castillo, Matt J. Huentelman, Vinodh Narayanan

المصدر: International Journal of Molecular Sciences ; Volume 25 ; Issue 22 ; Pages: 11922

مصطلحات موضوعية: Duchenne muscular dystrophy, DMD, rare disorders, WGS

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms252211922

الاتاحة: https://doi.org/10.3390/ijms252211922

المؤلفون: Kaleen M. Lavin, Zachary A. Graham, Jeremy S. McAdam, Samia M. O’Bryan, Devin Drummer, Margaret B. Bell, Christian J. Kelley, Manoel E. Lixandrão, Brandon Peoples, S. Craig Tuggle, Regina S. Seay, Kendall Van Keuren-Jensen, Matthew J. Huentelman, Patrick Pirrotte, Rebecca Reiman, Eric Alsop, Elizabeth Hutchins, Jerry Antone, Anna Bonfitto, Bessie Meechoovet, Joanna Palade, Joshua S. Talboom, Amber Sullivan, Inmaculada Aban, Kalyani Peri, Timothy J. Broderick, Marcas M. Bamman

المصدر: Physiological Genomics. 55:194-212

مصطلحات موضوعية: Physiology, Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d2bbbf7faefe5aff95aeb2b7cdae4490
https://doi.org/10.1152/physiolgenomics.00144.2022

المؤلفون: Devin J. Drummer, Kaleen M. Lavin, Zachary A. Graham, Samia M. O’Bryan, Jeremy S. McAdam, Manoel E. Lixandrão, Regina Seay, Inmaculada Aban, Herrick J. Siegel, Elie Ghanem, Jasvinder A. Singh, Anna Bonfitto, Jerry Antone, Rebecca Reiman, Elizabeth Hutchins, Kendall Van Keuren-Jensen, Scott E. Schutzler, C. Lowry Barnes, Arny A. Ferrando, S. Louis Bridges, Marcas M. Bamman

المصدر: Physiological genomics. 54(12)

مصطلحات موضوعية: Knee Joint, Physiology, Arthroplasty, Replacement, Hip, Osteoarthritis, Genetics, Humans, Endothelial Cells, Female, Arthroplasty, Replacement, Knee, Muscle, Skeletal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1b387b0af5eb5c9fefffbb8d6d2969d
https://pubmed.ncbi.nlm.nih.gov/36278270

المؤلفون: Kaleen M Lavin, Zachary A Graham, Jeremy S McAdam, Samia M O’Bryan, Devin Drummer, Margaret B Bell, Christian J Kelley, Manoel E Lixandrão, Brandon Peoples, S. Craig Tuggle, Regina S Seay, Kendall Van Keuren-Jensen, Matthew J Huentelman, Patrick Pirrotte, Rebecca Reiman, Eric Alsop, Elizabeth Hutchins, Jerry Antone, Anna Bonfitto, Bessie Meechoovet, Joanna Palade, Joshua S Talboom, Amber Sullivan, Inmaculada Aban, Kalyani Peri, Timothy J Broderick, Marcas M Bamman

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::affc2b4768fd18f55bc3a4345fbeb3d3
https://doi.org/10.1101/2022.09.14.507939

المؤلفون: Anna Abraham, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Wayne Jepsen, Chris Balak, Meredith Sanchez‐Castillo, Marcus Naymik, Anna Bonfitto, Sampathkumar Rangasamy, Semyon Kruglyak, Matthew Huentelman, Vinodh Narayanan

الاتاحة: http://dx.doi.org/10.1111/cge.14542/v2/response1

المؤلفون: Anjana Chandrasekhar, Zinayida Schlachetzki, Alison Coffey, Ali Fenstermaker, Richard Wang, Krista Bluske, Marcus Naymik, Sampath Rangasamy, Anna Bonfitto, Wayne Jepsen, Matt Huentelman, Vinodh Narayanan, Keri Ramsey, Akanchha Kesari, Denise Perry, Ryan Taft

المصدر: Genetics in Medicine. 24:S206

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7dfd4628b678b1363098c74545e21881
https://doi.org/10.1016/j.gim.2022.01.364