المؤلفون: Holly E Babcock, Sunit Dutta, Ramakrishna P Alur, Chad Brocker, Vasilis Vasiliou, Susan Vitale, Mones Abu-Asab, Brian P Brooks

المصدر: PLoS ONE, Vol 9, Iss 7, p e101782 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4086958?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/e830525ea41f45949613332e50f1e6e4Test

المؤلفون: Katarzyna Polonis, Jaime L. Lopes, Huong Cabral, Holly E. Babcock, Laura Kline, Kaylee M. Ruiz, Stuart Schwartz, Linda Hasadsri, Ross A. Rowsey, Nicole L. Hoppman

المصدر: American Journal of Medical Genetics Part A.

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c525830d4a2d5e28ed486a94cc847ba4Test
https://doi.org/10.1002/ajmg.a.63224Test

المؤلفون: Marwan Shinawi, Jessica Van Ziffle, Carsten G. Bönnemann, Mohamad A. Mikati, Vandana Shashi, Konrad Platzer, Manju A. Kurian, Katy Barwick, Kathleen A. Leppig, Patrick Devine, F. Lucy Raymond, Tomi L. Toler, Johan Lundgren, Koen L.I. van Gassen, Anne Slavotinek, Saskia N. van der Crabben, Wendy K. Chung, Richard H. van Jaarsveld, Matias Wagner, Rikke S. Møller, Marie T. McDonald, Pia Zacher, Kristen Wigby, Heather C Mefford, Dewi P. Bakker, Jennifer Friedman, Angus John Clarke, Joseph T. Shieh, Holly E. Babcock, Julian R. Sampson, Amy McTague, Jamal Ghoumid, Bernt Popp, Saskia B. Wortmann, Emma Hobson, Michaela Bonfert, Gabriella Horvath, Chiara Klöckner, Virgina Lee, Cyril Mignot, Yuri A. Zarate, Jennifer A. Sullivan, Marie-José H. van den Boogaard, Johannes R. Lemke, Alba Sanchis-Juan, Tommy Stödberg, Heinrich Sticht, Eva H. Brilstra, Alyssa Gates, Caroline Nava, Nicholas Stong, Sandra Donkervoort, Alexandrea Wadley, Boris Keren, Jamie L. Fraser, Ashley C. Taylor, Jennifer Keller-Ramey

المساهمون: Human Genetics, Pediatric surgery, Amsterdam Neuroscience - Neuroinfection & -inflammation, Human genetics

المصدر: Genet. Med., DOI: 10.1038/s41436-020-01020-w (2020)
Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-wTest
Klöckner, C, Sticht, H, Zacher, P, Popp, B, Babcock, H E, Bakker, D P, Barwick, K, Bonfert, M V, Bönnemann, C G, Brilstra, E H, Chung, W K, Clarke, A J, Devine, P, Donkervoort, S, Fraser, J L, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, M A, Lee, V, Leppig, K A, Lundgren, J, McDonald, M T, McTague, A, Mefford, H C, Mignot, C, Mikati, M A, Nava, C, Raymond, F L, Sampson, J R, Sanchis-Juan, A, Shashi, V, Shieh, J T C, Shinawi, M, Slavotinek, A, Stödberg, T, Stong, N, Sullivan, J A, Taylor, A C, Toler, T L, van den Boogaard, M J, van der Crabben, S N, van Gassen, K L I, van Jaarsveld, R H, Van Ziffle, J, Møller, R S & Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-wTest
Genetics in medicine, 23(4), 653-660. Lippincott Williams and Wilkins
Genetics in Medicine, 23(4), 653-660. Lippincott Williams and Wilkins

مصطلحات موضوعية: medicine.medical_specialty, Movement disorders, Synaptosomal-Associated Protein 25, Bioinformatics, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, Intellectual Disability, Intellectual disability, Medicine, STXBP1, Missense mutation, Humans, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Brain Diseases, business.industry, STX1B, medicine.disease, Phenotype, Neurodevelopmental Disorders, Child, Preschool, Medical genetics, medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfca6748143067988ef44bdb8b93deccTest
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60808Test

المؤلفون: Marwan Shinawi, Johan Lundgren, Jennifer A. Sullivan, Katy Barwick, Jessica Van Ziffle, Eva H. Brilstra, Tomi L. Toler, Alyssa Gates, Carsten G. Bönnemann, Amy McTague, Dewi P. Bakker, Manju A. Kurian, Saskia N. van der Crabben, Jamal Ghoumid, Ashley C. Taylor, F. Lucy Raymond, Yuri A. Zarate, Patrick Devine, Pia Zacher, Heather C Mefford, Marie T. McDonald, Konrad Platzer, Emma Hobson, Holly E. Babcock, Jennifer Keller-Ramey, Gabriella Horvath, Anne Slavotinek, Caroline Nava, Koen L.I. van Gassen, Richard H. van Jaarsveld, Chiara Klöckner, Virgina Lee, Cyril Mignot, Jamie L. Fraser, Angus John Clarke, Nicholas Stong, Bernt Popp, Wendy K. Chung, Jennifer Friedman, Johannes R. Lemke, Alexandrea Wadley, Julian R. Sampson, Rikke S. Møller, Tommy Stödberg, Michaela Bonfert, Mohamad A. Mikati, Kathleen A. Leppig, Sandra Donkervoort, Vandana Shashi, Boris Keren, Heather M. McLaughlin, Matias Wagner, Kristen Wigby, Marie-José H. van den Boogaard, Alba Sanchis-Juan, Heinrich Sticht, Joseph T. Shieh, Saskia B. Wortmann

المصدر: Genetics in Medicine. 23:796

مصطلحات موضوعية: Text mining, business.industry, Epileptic encephalopathy, MEDLINE, SNAP25, Medicine, business, Bioinformatics, Genetics (clinical), Early onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::78dca490bdfbc6bbc680d086f45d9d15Test
https://doi.org/10.1038/s41436-020-01090-wTest

المؤلفون: Thierry Vilboux, Margot D. Ahronovich, Benjamin D. Solomon, Holly E. Babcock, Ashleigh R. Pavey

المصدر: Molecular syndromology. 7(1)

مصطلحات موضوعية: 0301 basic medicine, Genetics, Candidate gene, Biology, medicine.disease, Phenotype, Genome, 03 medical and health sciences, Ciliopathy, 030104 developmental biology, Novel Insights from Clinical Practice, medicine, Copy-number variation, Gene, Genetics (clinical), X chromosome, X-linked recessive inheritance

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b04245cd49ab59b229b692574c45dbdTest
https://pubmed.ncbi.nlm.nih.gov/27194972Test

المؤلفون: Susan Vitale, Chad Brocker, Mones Abu-Asab, Brian P. Brooks, Sunit Dutta, Vasilis Vasiliou, Holly E. Babcock, Ramakrishna P. Alur

المصدر: PLoS ONE, Vol 9, Iss 7, p e101782 (2014)
PLoS ONE

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Embryo, Nonmammalian, Morpholino, genetic structures, Embryonic Development, Gene Expression, lcsh:Medicine, Tretinoin, Optic cup (anatomical), Eye, Genetic Disorders, medicine, Morphogenesis, Genetics, Animals, Birth Defects, lcsh:Science, Zebrafish, Cell Proliferation, Gene knockdown, Coloboma, Multidisciplinary, biology, lcsh:R, Biology and Life Sciences, Gene Expression Regulation, Developmental, Morphant, Extremities, Aldehyde Dehydrogenase, Zebrafish Proteins, biology.organism_classification, medicine.disease, eye diseases, Cell biology, DNA-Binding Proteins, Phenotype, Gene Knockdown Techniques, Genetics of Disease, Optic nerve, Eye development, lcsh:Q, sense organs, Research Article, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9650b07bb862816fe576229ad5af28aTest
http://europepmc.org/articles/PMC4086958?pdf=renderTest