-
1دورية أكاديمية
المؤلفون: Claudio Peter D’Incal, Elisa Cappuyns, Kaoutar Choukri, Kevin De Man, Kristy Szrama, Anthony Konings, Lina Bastini, Kim Van Meel, Amber Buys, Michele Gabriele, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Fabio Mohn, Marc Bühler, Nathalie Van der Aa, Anke Van Dijck, R. Frank Kooy, Wim Vanden Berghe
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-23 (2024)
مصطلحات موضوعية: Activity-dependent neuroprotective protein (ADNP), Helsmoortel-Van der Aa syndrome (HVDAS), Antibody validation, Blocking peptide competition assay, Adnp knock-out cell line, Immunoprecipitation, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
-
2دورية أكاديمية
المؤلفون: Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, lllana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe, R. Frank Kooy
المصدر: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-32 (2024)
مصطلحات موضوعية: Activity-dependent neuroprotective protein (ADNP), Methylation, Chromatin remodeler, Autophagy, Mitochondria, Post-mortem brain, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2051-5960
-
3دورية أكاديمية
المؤلفون: Claudio Peter D’Incal, Kirsten Esther Van Rossem, Kevin De Man, Anthony Konings, Anke Van Dijck, Ludovico Rizzuti, Alessandro Vitriolo, Giuseppe Testa, Illana Gozes, Wim Vanden Berghe, R. Frank Kooy
المصدر: Clinical Epigenetics, Vol 15, Iss 1, Pp 1-28 (2023)
مصطلحات موضوعية: Helsmoortel–Van der Aa syndrome, Activity-Dependent Neuroprotective Protein, ADNP, Chromatin remodeler, Autism, intellectual disability, neurodevelopmental disorder, cancer, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1868-7083
-
4دورية أكاديمية
المؤلفون: Kalin J. Fisher, MD, Michael G. Livesey, MD, Oliver C. Sax, DO, MS, Mohit N. Gilotra, MD, MS, Nathan N. O'Hara, PhD, MHA, R. Frank Henn, III, MD, S. Ashfaq Hasan, MD
المصدر: JSES International, Vol 6, Iss 6, Pp 1054-1061 (2022)
مصطلحات موضوعية: Capitellum, Capitellum fracture, Shear fracture, Distal humerus fracture, Complications, Surgical approach, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Max Hamaker, MD, Blessing Enobun, MD, MPH, Samir Kaveeshwar, MD, S. Ashfaq Hasan, MD, Brian Shiu, MD, R. Frank Henn, III, MD, Kelly Kilcoyne, MD, Umasuthan Srikumaran, MD, Gregory Gasbarro, MD, Zachary R. Zimmer, MD, Mohit N. Gilotra, MD, MS
المصدر: JSES International, Vol 6, Iss 6, Pp 957-962 (2022)
مصطلحات موضوعية: Subscapularis, Shoulder score, Rotator cuff tears, Outcomes assessment, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
-
6دورية أكاديمية
المؤلفون: Dominic J. Ventimiglia, BS, Matthew T. Chrencik, BS, Matheus B. Schneider, MD, Tina Zhang, MD, Murty M. Munn, MD, Logan C. Kolakowski, MD, Mohit N. Gilotra, MD, S. Ashfaq Hasan, MD, R. Frank Henn, III, MD
المصدر: JSES International, Vol 6, Iss 4, Pp 649-654 (2022)
مصطلحات موضوعية: Orthopedic, Shoulder, Satisfaction, Outcomes, PROMIS, PROs, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
-
7دورية أكاديمية
المؤلفون: Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman
المصدر: Cells, Vol 12, Iss 18, p 2330 (2023)
مصطلحات موضوعية: FMR1 premutation, FXPAC, FXTAS, FXAND, FXPOI, FMR1 molecular and clinical, Cytology, QH573-671
وصف الملف: electronic resource
-
8دورية أكاديمية
المؤلفون: Rob Willemsen, R. Frank Kooy
المصدر: Disease Models & Mechanisms, Vol 16, Iss 2 (2023)
مصطلحات موضوعية: fmr1, fragile x syndrome, fragile x-associated tremor/ataxia syndrome, mouse models, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
-
9دورية أكاديمية
المؤلفون: Mohiuddin Mohiuddin, R. Frank Kooy, Christopher E. Pearson
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: de novo mutation, mosaicism, timing of mutation, repeat instability, germline mutation, somatic mutation, Genetics, QH426-470
وصف الملف: electronic resource
-
10دورية أكاديمية
المؤلفون: Anshum Sood, Ashley Klein, Samir Kaveeshwar, Derek L. Jones, Grant Duvall, James Paul Hovis, Tristan B. Weir, Blessing Enobun, S. Ashfaq Hasan, R. Frank Henn, Jonathan D. Packer, Mohit N. Gilotra
المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-7 (2021)
مصطلحات موضوعية: sling, sling adherence, rotator cuff, brace, rehabilitation, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2474