المؤلفون: Stolz, J. R., Foote, K. M., Veenstra-Knol, H. E., Pfundt, R., Ten Broeke, S. W., de Leeuw, N., Roht, L., Pajusalu, S., Part, R., Rebane, I., Õunap, K., Stark, Z., Kirk, E. P., Lawson, J. A., Lunke, S., Christodoulou, J., Louie, R. J., Rogers, R. C., Davis, J. M., Innes, A. M., Wei, X. C., Keren, B., Mignot, C., Lebel, R. R., Sperber, S. M., Sakonju, A., Dosa, N., Barge-Schaapveld, Dqcm, Peeters-Scholte, Cmpcd, Ruivenkamp, C. A. L., van Bon, B. W., Kennedy, J., Low, K. J., Ellard, S., Pang, L., Junewick, J. J., Mark, P. R., Carvill, G. L., Swanson, G. T.

مصطلحات موضوعية: Adolescent, Adult, Alleles, Brain/diagnostic imaging/*metabolism/pathology, Child, Preschool, Developmental Disabilities/diagnostic imaging/*genetics/metabolism/pathology, Epilepsy/diagnostic imaging/*genetics/metabolism/pathology, Evoked Potentials/physiology, Gene Expression Regulation, Developmental, Genetic Association Studies, Heterozygote, Homozygote, Humans, Intellectual Disability/diagnostic imaging/*genetics/metabolism/pathology, Ion Channel Gating, Male, Models, Molecular, Mutation, Neurons/metabolism/pathology, Protein Conformation, Receptors, Kainic Acid/chemistry/*genetics/metabolism, GluK2, ataxia, channel gating, electrophysiology, epilepsy

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00275-5; Am J Hum Genet. 2021 Sep 2;108(9):1692-1709. doi:10.1016/j.ajhg.2021.07.007. Epub 2021 Aug 9.; https://rde.dspace-express.com/handle/11287/622128; American journal of human genetics

الاتاحة: https://doi.org/10.1016/j.ajhg.2021.07.007
https://rde.dspace-express.com/handle/11287/622128

المؤلفون: Stolz, J.R., Foote, K.M., Veenstra-Knol, H.E., Pfundt, R., Broeke, S.W. ten, Leeuw, N. de, Roht, L., Pajusalu, S., Part, R., Rebane, I., Ounap, K., Stark, Z., Kirk, E.P., Lawson, J.A., Lunke, S., Christodoulou, J., Louie, R.J., Rogers, R.C., Davis, J.M., Innes, A.M., Wei, X.C., Keren, B., Mignot, C., Lebel, R.R., Sperber, S.M., Sakonju, A., Dosa, N., Barge-Schaapveld, D.Q.C.M., Peeters-Scholte, C.M.P.C.D., Ruivenkamp, C.A.L., Bon, B.W. van, Kennedy, J., Low, K.J., Ellard, S., Pang, L.W., Junewick, J.J., Mark, P.R., Carvill, G.L., Swanson, G.T.

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dfce94aba2dcb4d3e32ea042fd9139d1
https://hdl.handle.net/1887/3264402

المؤلفون: Shikako-Thomas, K., Colquitt, Gavin T, Camilleri, J., Dosa, N.

المصدر: Department of Health Sciences and Kinesiology Faculty Presentations

مصطلحات موضوعية: Arena, Fighting, Recreational opportunities, Children, Youth, Disabilities, Kinesiology, Medicine and Health Sciences

Relation: https://digitalcommons.georgiasouthern.edu/health-kinesiology-facpres/104

الاتاحة: https://digitalcommons.georgiasouthern.edu/health-kinesiology-facpres/104

المؤلفون: Bellin, MH, Dosa, N, Zabel, TA, Aparicio, E, Dicianno, BE, Osteen, P

وصف الملف: text/plain

Relation: http://d-scholarship.pitt.edu/15678/1/licence.txt; Bellin, MH and Dosa, N and Zabel, TA and Aparicio, E and Dicianno, BE and Osteen, P (2013) Self-management, satisfaction with family functioning, and the course of psychological symptoms in emerging adults with spina bifida. Journal of Pediatric Psychology, 38 (1). 50 - 62. ISSN 0146-8693

الاتاحة: http://d-scholarship.pitt.edu/15678/
http://d-scholarship.pitt.edu/15678/1/licence.txt

المؤلفون: Bellin, MH, Dicianno, BE, Levey, E, Dosa, N, Roux, G, Marben, K, Zabel, TA

وصف الملف: text/plain

Relation: http://d-scholarship.pitt.edu/14738/1/licence.txt; Bellin, MH and Dicianno, BE and Levey, E and Dosa, N and Roux, G and Marben, K and Zabel, TA (2011) Interrelationships of sex, level of lesion, and transition outcomes among young adults with myelomeningocele. Developmental Medicine and Child Neurology, 53 (7). 647 - 652. ISSN 0012-1622

الاتاحة: http://d-scholarship.pitt.edu/14738/
http://d-scholarship.pitt.edu/14738/1/licence.txt