المؤلفون: Zarrei, Mehdi, Fehlings, Darcy L, Mawjee, Karizma, Switzer, Lauren, Thiruvahindrapuram, Bhooma, Walker, Susan, Merico, Daniele, Casallo, Guillermo, Uddin, Mohammed, MacDonald, Jeffrey R, Gazzellone, Matthew J, Higginbotham, Edward J, Campbell, Craig, deVeber, Gabrielle, Frid, Pam, Gorter, Jan Willem, Hunt, Carolyn, Kawamura, Anne, Kim, Marie, McCormick, Anna, Mesterman, Ronit, Samdup, Dawa, Marshall, Christian R, Stavropoulos, Dimitri J, Wintle, Richard F, Scherer, Stephen W

المصدر: Paediatrics Publications

مصطلحات موضوعية: adolescent, cerebral palsy, child, preschool, chromosome aberrations, cross-sectional studies, DNA copy number variations, female, genetic association studies, genetic predisposition to disease, genotype, hemiplegia, humans, male, neuroimaging, pedigree, phenotype, retrospective studies, risk factors, whole exome sequencing, Pediatrics

العلاقة: https://ir.lib.uwo.ca/paedpub/283Test; https://doi.org/10.1038/gim.2017.83Test

الإتاحة: https://doi.org/10.1038/gim.2017.83Test
https://ir.lib.uwo.ca/paedpub/283Test

المؤلفون: Zamek-Gliszczynski, Maciej J., Taub, Mitchell E., Chothe, Paresh P., Chu, Xiaoyan, Giacomini, Kathleen M., Kim, Richard B., Ray, Adrian S., Stocker, Sophie L., Bingham, Jashvant D., Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A., Walker, Susan, Marshall, Christian R., Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J.S., Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L., Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J., Ho, Karen

المصدر: Paediatrics Publications

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/paedpub/2686Test; https://ir.lib.uwo.ca/context/paedpub/article/3694/viewcontent/nihms_1708616.pdfTest

الإتاحة: https://doi.org/10.1002/cpt.1112Test
https://ir.lib.uwo.ca/paedpub/2686Test
https://ir.lib.uwo.ca/context/paedpub/article/3694/viewcontent/nihms_1708616.pdfTest

المؤلفون: Zarrei, Mehdi, Fehlings, Darcy L, Mawjee, Karizma, Switzer, Lauren, Thiruvahindrapuram, Bhooma, Walker, Susan, Merico, Daniele, Casallo, Guillermo, Uddin, Mohammed, MacDonald, Jeffrey R, Gazzellone, Matthew J, Higginbotham, Edward J, Campbell, Craig, deVeber, Gabrielle, Frid, Pam, Gorter, Jan Willem, Hunt, Carolyn, Kawamura, Anne, Kim, Marie, McCormick, Anna, Mesterman, Ronit, Samdup, Dawa, Marshall, Christian R, Stavropoulos, Dimitri J, Wintle, Richard F, Scherer, Stephen W

المصدر: Paediatrics Publications

مصطلحات موضوعية: Pediatrics

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/paedpub/127Test; https://ir.lib.uwo.ca/context/paedpub/article/1095/viewcontent/De_novo_and_rare_inherited_copy_number.pdfTest

الإتاحة: https://doi.org/10.1038/gim.2017.83Test
https://ir.lib.uwo.ca/paedpub/127Test
https://ir.lib.uwo.ca/context/paedpub/article/1095/viewcontent/De_novo_and_rare_inherited_copy_number.pdfTest

المؤلفون: Lowther, Chelsea, Speevak, Marsha, Armour, Christine M, Goh, Elaine S, Graham, Gail E, Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J M, Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H, Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A, Prasad, Chitra, Dick, Paul T, Hussain, Asmaa S, Walinga, Margreet, Reijenga, Renske G, Gazzellone, Matthew, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W, Stavropoulos, Dimitri J, McCready, Elizabeth, Bassett, Anne S

المصدر: Paediatrics Publications

مصطلحات موضوعية: Cell Adhesion Molecules, Neuronal, Child, DNA Copy Number Variations, Exons, Female, Genetic Predisposition to Disease, Genotype, Humans, Introns, Male, Microarray Analysis, Nerve Tissue Proteins, Neurodevelopmental Disorders, Penetrance, Phenotype, Sequence Deletion, Pediatrics

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/paedpub/39Test; https://ir.lib.uwo.ca/context/paedpub/article/1183/viewcontent/Molecular_characterization_of_NRXN1_deletions_from_19_263.pdfTest

الإتاحة: https://doi.org/10.1038/gim.2016.54Test
https://ir.lib.uwo.ca/paedpub/39Test
https://ir.lib.uwo.ca/context/paedpub/article/1183/viewcontent/Molecular_characterization_of_NRXN1_deletions_from_19_263.pdfTest

المؤلفون: Jobling, Rebekah K., Assoum, Mirna, Gakh, Oleksandr, Blaser, Susan, Raiman, Julian A., Mignot, Cyril, Roze, Emmanuel, Dürr, Alexandra, Brice, Alexis, Lévy, Nicolas, Prasad, Chitra, Paton, Tara, Paterson, Andrew D., Roslin, Nicole M., Marshall, Christian R., Desvignes, Jean Pierre, Roëckel-Trevisiol, Nathalie, Scherer, Stephen W., Rouleau, Guy A., Mégarbané, André, Isaya, Grazia, Delague, Valérie, Yoon, Grace

المصدر: Paediatrics Publications

مصطلحات موضوعية: Ataxia, Cerebellar atrophy, Mitochondrial processing peptidase, Mitochondrial protein processing, Non-progressive, PMPCA

وصف الملف: text/html

العلاقة: https://ir.lib.uwo.ca/paedpub/2347Test; https://ir.lib.uwo.ca/context/paedpub/article/3355/type/native/viewcontent/awv057.pdfTest

الإتاحة: https://doi.org/10.1093/brain/awv057Test
https://ir.lib.uwo.ca/paedpub/2347Test
https://ir.lib.uwo.ca/context/paedpub/article/3355/type/native/viewcontent/awv057.pdfTest

المؤلفون: Sawyer, Sarah L., Schwartzentruber, Jeremy, Beaulieu, Chandree L., Dyment, David, Smith, Amanda, Chardon, Jodi Warman, Yoon, Grace, Rouleau, Guy A., Suchowersky, Oksana, Siu, Victoria, Murphy, Lisa, Hegele, Robert A., Marshall, Christian R., Bulman, Dennis E., Majewski, Jacek, Tarnopolsky, Mark, Boycott, Kym M.

المصدر: Paediatrics Publications

مصطلحات موضوعية: Ataxia, Clinical diagnosis, Whole-exome sequencing

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/paedpub/1905Test; https://ir.lib.uwo.ca/context/paedpub/article/2913/viewcontent/518.pdfTest

الإتاحة: https://doi.org/10.1002/humu.22451Test
https://ir.lib.uwo.ca/paedpub/1905Test
https://ir.lib.uwo.ca/context/paedpub/article/2913/viewcontent/518.pdfTest