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1دورية أكاديمية
المؤلفون: Blayney, Gillian V., Laffan, Eoghan, Jacob, Preethi A., Baptiste, Caitlin D., Gabriel, Heinz, Sparks, Teresa N., Yaron, Yuval, Norton, Mary E., Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie J., Allen, Stephanie, Vora, Neeta, Noor, Abdul, Monaghan, Caitriona, Kilby, Mark D., Wapner, Ronald J., Chitty, Lyn S., Mone, Fionnuala
المصدر: Blayney , G V , Laffan , E , Jacob , P A , Baptiste , C D , Gabriel , H , Sparks , T N , Yaron , Y , Norton , M E , Diderich , K , Wang , Y , Chong , K , Chitayat , D , Saini , N , Aggarwal , S , Pauta , M , Borrell , A , Gilmore , K , Chandler , N J , Allen , S , Vora , N , Noor , A , Monaghan , C , Kilby , M D , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/pd.6466Test
https://pure.eur.nl/en/publications/c4068e9d-ebf8-4449-b9d5-fab832adcfaaTest
https://pure.eur.nl/ws/files/122450793/Monogenic_conditions_and_central_nervous_system_anomalies.pdfTest
http://www.scopus.com/inward/record.url?scp=85178425215&partnerID=8YFLogxKTest -
2دورية أكاديمية
المؤلفون: Hanson, Britt, Shaw, Joe, Povarnitsyn, Nikita, Bowns, Benjamin, Young, Elizabeth, Gerrish, Amy, Allen, Stephanie, Scotchman, Elizabeth, Chitty, Lyn S, Chandler, Natalie J
المساهمون: National Institute for Health and Care Research Biomedical Research Centre
المصدر: Clinical Chemistry ; volume 70, issue 5, page 727-736 ; ISSN 0009-9147 1530-8561
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3دورية أكاديمية
المؤلفون: Blayney, Gillian V., Laffan, Eoghan, Jacob, Preethi A., Baptiste, Caitlin D., Gabriel, Heinz, Sparks, Teresa N., Yaron, Yuval, Norton, Mary E., Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie J., Allen, Stephanie, Vora, Neeta, Noor, Abdul, Monaghan, Caitriona, Kilby, Mark D., Wapner, Ronald J., Chitty, Lyn S., Mone, Fionnuala
المصدر: Blayney , G V , Laffan , E , Jacob , P A , Baptiste , C D , Gabriel , H , Sparks , T N , Yaron , Y , Norton , M E , Diderich , K , Wang , Y , Chong , K , Chitayat , D , Saini , N , Aggarwal , S , Pauta , M , Borrell , A , Gilmore , K , Chandler , N J , Allen , S , Vora , N , Noor , A , Monaghan , C , Kilby , M D , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/pd.6466Test
https://pure.eur.nl/en/publications/c4068e9d-ebf8-4449-b9d5-fab832adcfaaTest
https://pure.eur.nl/ws/files/122450793/Monogenic_conditions_and_central_nervous_system_anomalies.pdfTest
http://www.scopus.com/inward/record.url?scp=85178425215&partnerID=8YFLogxKTest -
4دورية أكاديمية
المؤلفون: D'Gama, Alissa M, Mulhern, Sarah, Sheidley, Beth R, Boodhoo, Fadil, Buts, Sarah, Chandler, Natalie J, Cobb, Joanna, Curtis, Meredith, Higginbotham, Edward J, Holland, Jonathon, Khan, Tayyaba, Koh, Julia, Liang, Nicole SY, McRae, Lyndsey, Nesbitt, Sarah E, Oby, Brandon T, Paternoster, Ben, Patton, Alistair, Rose, Graham, Scotchman, Elizabeth, Valentine, Rozalia, Wiltrout, Kimberly N, Gene-STEPS Study, Group, IPCHiP Executive, Committee, Hayeems, Robin Z, Jain, Puneet, Lunke, Sebastian, Marshall, Christian R, Rockowitz, Shira, Sebire, Neil J, Stark, Zornitza, White, Susan M, Chitty, Lyn S, Cross, J Helen, Scheffer, Ingrid E, Chau, Vann, Costain, Gregory, Poduri, Annapurna, Howell, Katherine B, McTague, Amy
المصدر: The Lancet Neurology , 22 (9) pp. 812-825. (2023)
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10175582/1/McTague_Evaluation%20of%20the%20feasibility,%20diagnostic%20yield,%20and%20clinical%20utility%20of%20rapid%20genome%20sequencing%20in%20infantile%20epilepsy_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10175582Test/
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5دورية أكاديمية
المؤلفون: Allen, Stephanie K., Chandler, Natalie J., Kinning, Esther, Harrison, Victoria, Brothwell, Shona L. C., Vijay, Suresh, Castleman, James, Cilliers, Deirdre
المصدر: Prenatal Diagnosis; Apr2024, Vol. 44 Issue 4, p432-442, 11p
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6دورية أكاديمية
المؤلفون: Blayney, Gillian V., Laffan, Eoghan, Jacob, Preethi A., Baptiste, Caitlin D., Gabriel, Heinz, Sparks, Teresa N., Yaron, Yuval, Norton, Mary E., Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie J., Allen, Stephanie, Vora, Neeta
المصدر: Prenatal Diagnosis; Apr2024, Vol. 44 Issue 4, p422-431, 10p
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7دورية أكاديمية
المؤلفون: Chandler, Natalie J, Scotchman, Elizabeth, Mellis, Rhiannon, Ramachandran, Vijaya, Roberts, Rowenna, Chitty, Lyn S
المصدر: Prenatal Diagnosis (2022) (In press).
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10148638/1/Mellis_Lessons%20learnt%20from%20prenatal%20exome%20sequencing_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10148638Test/
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8دورية أكاديمية
المؤلفون: Chandler, Natalie J., Scotchman, Elizabeth, Mellis, Rhiannon, Ramachandran, Vijaya, Roberts, Rowenna, Chitty, Lyn S.
المصدر: Prenatal Diagnosis ; volume 42, issue 7, page 831-844 ; ISSN 0197-3851 1097-0223
الإتاحة: https://doi.org/10.1002/pd.6165Test
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9دورية أكاديمية
المصدر: Clinical Science ; volume 136, issue 22, page 1615-1629 ; ISSN 0143-5221 1470-8736
الإتاحة: https://doi.org/10.1042/cs20210380Test
https://portlandpress.com/clinsci/article-pdf/136/22/1615/939517/cs-2021-0380c.pdfTest -
10دورية أكاديمية
المؤلفون: Allen, Stephanie K., Chandler, Natalie J., Kinning, Esther, Harrison, Victoria, Brothwell, Shona L. C., Vijay, Suresh, Castleman, James, Cilliers, Deirdre
المصدر: Prenatal Diagnosis ; volume 44, issue 4, page 432-442 ; ISSN 0197-3851 1097-0223
الإتاحة: https://doi.org/10.1002/pd.6476Test
