-
1دورية أكاديمية
المؤلفون: Marcozzi, Alessio, Jager, Myrthe, Elferink, Martin, Straver, Roy, van Ginkel, Joost H., Peltenburg, Boris, Chen, Li-Ting, Renkens, Ivo, van Kuik, Joyce, Terhaard, Chris, de Bree, Remco, Devriese, Lot A., Willems, Stefan M., Kloosterman, Wigard P., de Ridder, Jeroen
المصدر: npj Genomic Medicine ; volume 8, issue 1 ; ISSN 2056-7944
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1038/s41525-023-00356-xTest
https://www.nature.com/articles/s41525-023-00356-x.pdfTest
https://www.nature.com/articles/s41525-023-00356-xTest -
2مورد إلكتروني
-
3دورية أكاديمية
المؤلفون: Ramirez-Martinez, Andres, Zhang, Yichi, van den Boogaard, Marie-Jose, McAnally, John R, Rodriguez-Caycedo, Cristina, Chai, Andreas C, Chemello, Francesco, Massink, Maarten Pg, Cuppen, Inge, Elferink, Martin G, van Es, Robert Jj, Janssen, Nard G, Walraven-van Oijen, Linda Pam, Liu, Ning, Bassel-Duby, Rhonda, van Jaarsveld, Richard H, Olson, Eric N
المساهمون: Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Neurologen, Brain, Genetica Medische Informatica, CMM Groep Burgering, Cancer, MS Mondziekten/Kaakchirurgie, Other research (not in main researchprogram)
مصطلحات موضوعية: Animals, Humans, Membrane Proteins/genetics, Mice, Mobius Syndrome, Muscle Proteins/genetics, Muscular Diseases/genetics, Pierre Robin Syndrome, General Medicine, Journal Article
وصف الملف: application/pdf
-
4دورية أكاديمية
المصدر: Genetics in Medicine ; volume 24, issue 6, page 1306-1315 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.03.003Test
https://api.elsevier.com/content/article/PII:S1098360022006803?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022006803?httpAccept=text/plainTest -
5مورد إلكتروني
-
6
-
7دورية أكاديمية
المؤلفون: Marcozzi, Alessio, Jager, Myrthe, Elferink, Martin, Straver, Roy, van Ginkel, Joost H, Peltenburg, Boris, Chen, Li-Ting, Renkens, Ivo, van Kuik, Joyce, Terhaard, Chris, de Bree, Remco, Devriese, Lot A, Willems, Stefan M, Kloosterman, Wigard P, de Ridder, Jeroen
المساهمون: CMM Groep De Ridder, Cancer, Genetica Medische Informatica, Child Health, MS Mondziekten/Kaakchirurgie, MS Hoofd-Hals Chirurgische Oncologie, MS Radiotherapie, MS Medische Oncologie, Pathologie Pathologen staf
مصطلحات موضوعية: Genetics(clinical), Genetics, Molecular Biology, Journal Article
وصف الملف: application/pdf
-
8دورية أكاديمية
المصدر: Genetics in Medicine ; volume 23, issue 3, page 562-570 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-020-01015-7Test
http://www.nature.com/articles/s41436-020-01015-7.pdfTest
http://www.nature.com/articles/s41436-020-01015-7Test
https://api.elsevier.com/content/article/PII:S1098360021049558?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021049558?httpAccept=text/plainTest -
9مورد إلكتروني
المؤلفون: Ernst, Robert F, Elferink, Martin
العلاقة: https://github.com/UMCUGenetics/DxNextflowWES/tree/v1.0.1Test; https://dx.doi.org/10.5281/zenodo.4552094Test; https://dx.doi.org/10.5281/zenodo.4551798Test
الإتاحة: https://doi.org/10.5281/zenodo.455202910.5281/zenodo.455209410.5281/zenodo.4551798Test
https://zenodo.org/record/4552029Test -
10
المؤلفون: Marcozzi, Alessio, Jager, Myrthe, Elferink, Martin, Straver, Roy, van Ginkel, Joost H, Peltenburg, Boris, Chen, Li-Ting, Renkens, Ivo, van Kuik, Joyce, Terhaard, Chris, de Bree, Remco, Devriese, Lot A, Willems, Stefan M, Kloosterman, Wigard P, de Ridder, Jeroen
المساهمون: CMM Groep De Ridder, Cancer, Genetica Medische Informatica, Child Health, MS Mondziekten/Kaakchirurgie, MS Hoofd-Hals Chirurgische Oncologie, CMM USEQ Facility, MS Radiotherapie, MS Medische Oncologie, Pathologie Pathologen staf
مصطلحات موضوعية: Published Erratum
وصف الملف: application/pdf
النص الكامل