المؤلفون: Hacer Durmus

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: genetic, clinical care, critically ill, rapid exome sequencing, exom squencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1522931/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0573669f604249f89c0c75afc4de1ad7

المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers

المصدر: Frontiers in Genetics, Vol 14 (2024)

مصطلحات موضوعية: rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1304520/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/364681d5e75041ca8dc96c630c12c069

المؤلفون: RADICON-NL consortium

المساهمون: HEE, Genetica Klinische Genetica, Child Health, MS Neonatologie, Genetica, Cancer, JC onderzoeksprogramma Methodologie

مصطلحات موضوعية: Clinical utility, Diagnostic workflow, Economic evaluation, Neonates, Rapid exome sequencing, Pediatrics, Perinatology, and Child Health, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/448897

الاتاحة: https://dspace.library.uu.nl/handle/1874/448897

المؤلفون: Olde Keizer, R.A.C.M., Marouane, A., Kerstjens-Frederikse, W.S., Deden, A.C., Lichtenbelt, K.D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L.S., Sinke, R.J., Pfundt, R., Stevens, S.J.C., Andriessen, P., van Lingen, R.A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., van Amstel, H.K.P., de Boode, W.P., van Zelst-Stams, W.A.G., Frederix, G.W.J., Vissers, L.E.L.M., DE Koning, Bart, van den Wijngaard, Arthur, Sinnema, Margje, Stegmann, Alexander, Brunner La Rocca, Hans-Peter

المصدر: Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode ....

مصطلحات موضوعية: Diagnostic workflow, Neonates, Economic evaluation, Clinical utility, Rapid exome sequencing, COSTS

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/c05cff91-fccb-4f17-b524-b4a9b44dda30
https://doi.org/10.1007/s00431-023-04909-1

المؤلفون: Xuejun Ouyang, Yu Zhang, Lijuan Zhang, Jixuan Luo, Ting Zhang, Hui Hu, Lin Liu, Lieqiang Zhong, Shaoying Zeng, Pingyi Xu, Zhenjiang Bai, Lee-Jun Wong, Jing Wang, Chunli Wang, Bin Wang, Victor Wei Zhang

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: rapid exome sequencing, mitochondrial diseases, mtDNA sequencing, pediatric patients, genetic disorders, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.725259/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/54d458b4e02e4275b4a844c2ea17f170

المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield

Relation: https://figshare.com/articles/dataset/Table2_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_XLSX/24957450

الاتاحة: https://doi.org/10.3389/fgene.2023.1304520.s003
https://figshare.com/articles/dataset/Table2_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_XLSX/24957450

المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield

Relation: https://figshare.com/articles/dataset/DataSheet1_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_DOCX/24957435

الاتاحة: https://doi.org/10.3389/fgene.2023.1304520.s001
https://figshare.com/articles/dataset/DataSheet1_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_DOCX/24957435

المؤلفون: Richmond, Christopher M, Campbell, Sally, Foo, Hee W, Lunke, Sebastian, Stark, Zornitza, Moody, Amanda, Bannister, Elizabeth, Greenway, Anthea, Brown, Natasha

مصطلحات موضوعية: Genetics, Clinical sciences, Science & Technology, Life Sciences & Biomedicine, Medical genomics, Rapid exome sequencing, Heredity

Relation: Molecular Syndromology; Richmond, CM; Campbell, S; Foo, HW; Lunke, S; Stark, Z; Moody, A; Bannister, E; Greenway, A; Brown, N, Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure, Molecular Syndromology, 2020, 11 (1), pp. 50-55; http://hdl.handle.net/10072/396222

الاتاحة: http://hdl.handle.net/10072/396222
https://doi.org/10.1159/000505886

المؤلفون: McDermott, H., Robinson, H. K., Caswell, R., Gowda, H., Offiah, A., Naik, S.

مصطلحات موضوعية: Robinow, butterfly vertebra, rapid exome sequencing, retromicrognathia, rib fusion

Relation: https://doi.org/10.1002/ajmg.a.62499; Am J Med Genet A. 2021 Sep 24. doi:10.1002/ajmg.a.62499.; https://rde.dspace-express.com/handle/11287/622305; American journal of medical genetics. Part A

الاتاحة: https://doi.org/10.1002/ajmg.a.62499
https://rde.dspace-express.com/handle/11287/622305

المؤلفون: Andriessen, Peter, van Zelst-Stams, Wendy A.G., Vissers, Lisenka E.L.M.

المساهمون: EngD School AP, Eindhoven MedTech Innovation Center, School of Med. Physics and Eng. Eindhoven

المصدر: European Journal of Pediatrics, 182(6), 2683-2692. Springer

مصطلحات موضوعية: Diagnostic workflow, Critical Illness, Infant, Newborn, Neonates, Clinical utility, Economic evaluation, Cohort Studies, Rapid exome sequencing, Exome Sequencing, Humans, Prospective Studies, Genetic Testing/methods, Netherlands, Retrospective Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::b1ae720d4a54f7443411e21c69367dd9
https://research.tue.nl/nl/publications/39e32709-b690-4e13-a7c1-2264a9946c6e

المؤلفون: Tan T.Y., Springer A., Tan N.B., Temple S.L., Theda C., Vasudevan A., White S.M., Yeung A., Zhu Y., Martyn M., Best S., Roscioli T., Christodoulou J., Stark Z., Lunke S., Eggers S., Wilson M., Patel C., Barnett C.P., Pinner J., Sandaradura S.A., Buckley M.F., Krzesinski E.I., De Silva M.G., Brett G.R., Boggs K., Mowat D., Kirk E.P., Ades L.C., Akesson L.S., Amor D.J., Ayres S., Baxendale A., Borrie S., Bray A., Brown N.J., Chan C.Y., Chong B., Cliffe C., Delatycki M.B., Edwards M., Elakis G., Fahey M.C., Fennell A., Fowles L., Gallacher L., Higgins M., Howell K.B., Hunt L., Hunter M.F., Jones K.J., King S., Kumble S., Lang S., Le Moing M., Ma A., Phelan D., Quinn M.C.J., Richards A., Richmond C.M., Riseley J., Rodgers J., Sachdev R., Sadedin S., Schlapbach L.J., Smith J.

مصطلحات الفهرس: monogenic disorder, adolescent, article, Australia, child, cohort analysis, copy number variation, critically ill patient, diagnostic test accuracy study, diagnostic value, disease association, female, genetic association, health care system, hospital admission, hospital discharge, human, infant, intersectoral collaboration, laboratory test, major clinical study, male, mitochondrial genetics, molecular diagnosis, multicenter study, neonatal intensive care unit, newborn, palliative therapy, pediatric intensive care unit, priority journal, prospective study, public health service, RNA analysis, whole exome sequencing, ultra rapid exome sequencing, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/29144
JAMA - Journal of the American Medical Association
LibKey Link