المؤلفون: Conecker, Gabrielle, Xia, Maya Y., Hecker, JayEtta, Achkar, Christelle, Cukiert, Cristine, Devries, Seth, Donner, Elizabeth, Fitzgerald, Mark P., Gardella, Elena, Hammer, Michael, Hegde, Anaita, Hu, Chunhui, Kato, Mitsuhiro, Luo, Tian, Schreiber, John M., Wang, Yi, Kooistra, Tammy, Oudin, Madeleine, Waldrop, Kayla, Youngquist, J. Tyler, Zhang, Dennis, Wirrell, Elaine, Perry, M. Scott

المصدر: Epilepsia ; ISSN 0013-9580 1528-1167

الإتاحة: https://doi.org/10.1111/epi.17992Test

المؤلفون: Conecker, Gabrielle, Xia, Maya Y., Hecker, JayEtta, Achkar, Christelle, Cukiert, Cristine, Devries, Seth, Donner, Elizabeth, Fitzgerald, Mark, Gardella, Elena, Hammer, Michael, Hegde, Anaita, Hu, Chunhui, Kato, Mitsuhiro, Luo, Tian, Schreiber, John M., Wang, Yi, Kooistra, Tammy, Oudin, Madeleine, Waldrop, Kayla, Youngquist, J. Tyler, Zhang, Dennis, Wirrell, Elaine, Perry, M. Scott

المصدر: Epilepsia ; ISSN 0013-9580 1528-1167

الإتاحة: https://doi.org/10.1111/epi.17991Test

المؤلفون: Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camilo, Latham, Lea, Zein, Wadih M, Lehky, Tanya, Brewer, Carmen, Baker, Eva H, Thurm, Audrey, Farmer, Cristan A, Rosenzweig, Sergio D, Lyons, Jonathan J, Schreiber, John M, Gropman, Andrea, Lingala, Shilpa, Ghany, Marc G, Solomon, Beth, Macnamara, Ellen, Davids, Mariska, Stratakis, Constantine A, Kimonis, Virginia, Gahl, William A, Wolfe, Lynne

المصدر: Genetics in Medicine. 19(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Eye Disease and Disorders of Vision, Clinical Research, Clinical Trials and Supportive Activities, Adolescent, Adult, Albumins, Cerebrospinal Fluid Proteins, Child, Child, Preschool, Developmental Disabilities, Female, Glycoproteins, Glycosylation, Humans, Male, Mutation, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Phenotype, Young Adult, deglycosylation, glycosylation, natural history, NGLY1, NGLY1-CDDG, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3cf4782rTest

المؤلفون: McGinley, Christopher, Teti, Saige, Hofmann, Katherine, Schreiber, John M., Cohen, Nathan T., Gaillard, William D., Oluigbo, Chima O.

المصدر: Neuropediatrics; Feb2024, Vol. 55 Issue 1, p1-8, 8p

مصطلحات موضوعية: EPILEPSY surgery, PARTIAL epilepsy, PEOPLE with epilepsy, DATA analysis, DYSPLASIA, TEMPORAL lobectomy, PEDIATRIC surgery

المؤلفون: Kramer, Zachary J., Brandt, Carrin, Havens, Kathryn, Pasupuleti, Archana, Gaillard, William D., Schreiber, John M.

المصدر: Therapeutic Advances in Rare Disease ; volume 3, page 263300402210768 ; ISSN 2633-0040 2633-0040

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1177/26330040221076861Test

المؤلفون: Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A

المصدر: Annals of Clinical and Translational Neurology. 1(3)

مصطلحات موضوعية: Brain Disorders, Genetics, Neurosciences, Biotechnology, Neurodegenerative, Pediatric, 5.1 Pharmaceuticals, Development of treatments and therapeutic interventions, Good Health and Well Being, PhD for the NISC Comparative Sequencing Program, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4115013xTest

المؤلفون: McGinley, Christopher, Teti, Saige, Hofmann, Katherine, Schreiber, John M., Cohen, Nathan T., Gaillard, William D., Oluigbo, Chima O.

المصدر: Neuropediatrics ; volume 55, issue 01, page 001-008 ; ISSN 0174-304X 1439-1899

الإتاحة: https://doi.org/10.1055/a-2213-8584Test

المؤلفون: Hack, Joshua B., Horning, Kyle, Juroske Short, Denise M., Schreiber, John M., Watkins, Joseph C., Hammer, Michael F.

المصدر: Neurology Genetics ; volume 9, issue 3 ; ISSN 2376-7839

الإتاحة: https://doi.org/10.1212/nxg.0000000000200060Test

المؤلفون: Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T., Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W., Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M., Finnila, Candice R., Guillen Sacoto, Maria J., Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S., McDermott, John Henry, Meltzer, Meira R., Monaghan, Kristin G., Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M., Schreiber, John M., Sirsi, Deepa, Wierenga, Klaas J., Wojcik, Monica H., Papuc, Sorina M., Steindl, Katharina, Sticht, Heinrich, Rauch, Anita

المصدر: European Journal of Human Genetics ; volume 27, issue 5, page 747-759 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-018-0331-zTest
http://www.nature.com/articles/s41431-018-0331-z.pdfTest
http://www.nature.com/articles/s41431-018-0331-zTest

المؤلفون: Komulainen-Ebrahim, Jonna, Schreiber, John M., Kangas, Salla M., Pylkäs, Katri, Suo-Palosaari, Maria, Rahikkala, Elisa, Liinamaa, Johanna, Immonen, Esa-Ville, Hassinen, Ilmo, Myllynen, Päivi, Rantala, Heikki, Hinttala, Reetta, Uusimaa, Johanna

المساهمون: Alma and K.A. Snellman Foundation, Oulu, Finland, Pediatric Research Foundation, Finland, The Finnish Cultural Foundation, North Ostrobothnia Regional Fund, Oulu, Finland, Arvo ja Lea Ylppö Säätiö, Helsinki, Finland, Special State Grants for Health Research in Department of Pediatrics and Adolescence, Oulu University Hospital, Finland

المصدر: Seizure ; volume 69, page 99-104 ; ISSN 1059-1311

الإتاحة: https://doi.org/10.1016/j.seizure.2019.03.010Test
https://api.elsevier.com/content/article/PII:S1059131117308397?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1059131117308397?httpAccept=text/plainTest