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1دورية أكاديمية
المؤلفون: van den Heuvel, Lieke M., van der Pal, Sylvia M., Verschoof-Puite, Rendelien K., Klapwijk, Jasmijn E., Elsinghorst, Ellen, Dekkers, Eugènie, van der Ploeg, Catharina P. B., Henneman, Lidewij
المصدر: van den Heuvel , L M , van der Pal , S M , Verschoof-Puite , R K , Klapwijk , J E , Elsinghorst , E , Dekkers , E , van der Ploeg , C P B & Henneman , L 2024 , ' Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result : A Questionnaire Study among Parents ' , International journal of neonatal screening , vol. 10 , no. 1 , 18 . https://doi.org/10.3390/ijns10010018Test
الإتاحة: https://doi.org/10.3390/ijns10010018Test
https://research.vumc.nl/en/publications/40beb154-9c63-4df0-b3a1-ff2af5e0b887Test
http://www.scopus.com/inward/record.url?scp=85189167549&partnerID=8YFLogxKTest -
2دورية أكاديمية
المؤلفون: Diderich, Karin E.M., Klapwijk, Jasmijn E., van der Schoot, Vyne, van den Born, Myrthe, Wilke, Martina, Joosten, Marieke, Stuurman, Kyra E., Hoefsloot, Lies H., Van Opstal, Diane, Brüggenwirth, Hennie T., Srebniak, Malgorzata I.
المصدر: Diderich , K E M , Klapwijk , J E , van der Schoot , V , van den Born , M , Wilke , M , Joosten , M , Stuurman , K E , Hoefsloot , L H , Van Opstal , D , Brüggenwirth , H T & Srebniak , M I 2024 , ' Response to the comment on Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844) ' , European Journal of Medical Genetics , vol. 67 , 104884 . https://doi.org/10.1016/j.ejmg.2023.104884Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104884Test
https://pure.eur.nl/en/publications/9971203e-3eae-458d-a93d-21c5c5978975Test
https://pure.eur.nl/ws/files/120241866/Response_to_the_comment_on_Diderich_et_al._The_role_of_a_multidisciplinary_team_in_managing_variants_of_uncertain_clinical_significance_in_prenatal_genetic_diagnosis_EJMG_66_10_104844_.pdfTest
http://www.scopus.com/inward/record.url?scp=85177065122&partnerID=8YFLogxKTest -
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المؤلفون: Buchanan, James, Hill, Melissa, Vass, Caroline M., Hammond, Jennifer, Riedijk, Sam, Klapwijk, Jasmijn E., Harding, Eleanor, Lou, Stina, Vogel, Ida, Hui, Lisa, Ingvoldstad, Charlotta, Soller, Maria Johansson, Ormond, Kelly E., Choolani, Mahesh, Zheng, Qian, Chitty, Lyn S., Lewis, Celine
المصدر: Prenatal Diagnosis. 42(7):934-946
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-485919Test
https://doi.org/10.1002/pd.6159Test
https://uu.diva-portal.org/smash/get/diva2:1704137/FULLTEXT01.pdfTest -
4دورية أكاديمية
المؤلفون: Diderich, Karin E.M., Klapwijk, Jasmijn E., van der Schoot, Vyne, Brüggenwirth, Hennie T., Joosten, Marieke, Srebniak, Malgorzata I.
المصدر: Diderich , K E M , Klapwijk , J E , van der Schoot , V , Brüggenwirth , H T , Joosten , M & Srebniak , M I 2023 , ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ' , Application of Clinical Genetics , vol. 16 , pp. 89-97 . https://doi.org/10.2147/TACG.S411185Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.2147/TACG.S411185Test
https://pure.eur.nl/en/publications/98cb4be3-582a-4608-b9da-8e591fa1f537Test
https://pure.eur.nl/ws/files/93220442/Challenges_and_Pragmatic_Solutions_in_Pre_Test_and_Post_Test_Genetic_Counseling_for_Prenatal_Exome_Sequencing.pdfTest
http://www.scopus.com/inward/record.url?scp=85160316981&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Diderich,Karin EM, Klapwijk,Jasmijn E, van der Schoot,Vyne, Brüggenwirth,Hennie T, Joosten,Marieke, Srebniak,Malgorzata I
مصطلحات موضوعية: The Application of Clinical Genetics
وصف الملف: text/html
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6كتاب
المؤلفون: Bijma, Hilmar H., Brüggenwirth, Hennie T., Dekkers, Frederike, Diderich, Karin E.M., El Bouazzaoui, Fadua, Emons, Iris, Fisher, Jane, Jansen-Bakkeren, Iris, Joosten, Marieke, Klapwijk, Jasmijn E., Knapen, Maarten F.C.M., Lewis, Celine, Lou, Stina, Ormond, Kelly E., Pajkrt, Eva, Peters, Ingrid A., Petersen, Olav B., Ras, Lara, Riedijk, Sam, Srebniak, Malgorzata I., van Leeuwen, Liesbeth, Vogel, Ida, Wildschut, Hajo I.J., Zavyalova, Diana
المصدر: Prenatal Genetic Counseling ; page xiii-xiv
الإتاحة: https://doi.org/10.1016/b978-0-12-823329-0.00020-9Test
https://api.elsevier.com/content/article/PII:B9780128233290000209?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780128233290000209?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: van den Heuvel, Lieke M., van der Pal, Sylvia M., Verschoof-Puite, Rendelien K., Klapwijk, Jasmijn E., Elsinghorst, Ellen, Dekkers, Eugènie, van der Ploeg, Catharina P. B., Henneman, Lidewij
المصدر: International Journal of Neonatal Screening (IJNS); Mar2024, Vol. 10 Issue 1, p18, 14p
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8دورية أكاديمية
المؤلفون: Hammond, Jennifer, Klapwijk, Jasmijn E., Riedijk, Sam, Lou, Stina, Ormond, Kelly E., Vogel, Ida, Hui, Lisa, Sziepe, Emma-Jane, Buchanan, James, Ingvoldstad-Malmgren, Charlotta, Soller, Maria Johansson, Harding, Eleanor, Hill, Melissa, Lewis, Celine
المصدر: Hammond , J , Klapwijk , J E , Riedijk , S , Lou , S , Ormond , K E , Vogel , I , Hui , L , Sziepe , E-J , Buchanan , J , Ingvoldstad-Malmgren , C , Soller , M J , Harding , E , Hill , M & Lewis , C 2022 , ' Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing : Development of attributes for a discrete choice experiment, using a mixed-methods design ' , PLoS ONE , vol. 17 , no. 1 January ....
الإتاحة: https://doi.org/10.1371/journal.pone.0261898Test
https://research.vumc.nl/en/publications/531db378-5258-4410-b2d3-a90d1aa0a45fTest
http://www.scopus.com/inward/record.url?scp=85123693948&partnerID=8YFLogxKTest -
9دورية أكاديمية
المؤلفون: van der Pal, Sylvia M., Wins, Sophie, Klapwijk, Jasmijn E., van Dijk, Tessa, Kater-Kuipers, Adriana, van der Ploeg, Catharina P. B., Jans, Suze M. P. J., Kemp, Stephan, Verschoof-Puite, Rendelien K., van den Bosch, Lion J. M., Henneman, Lidewij
المصدر: van der Pal , S M , Wins , S , Klapwijk , J E , van Dijk , T , Kater-Kuipers , A , van der Ploeg , C P B , Jans , S M P J , Kemp , S , Verschoof-Puite , R K , van den Bosch , L J M & Henneman , L 2022 , ' Parents' views on accepting, declining, and expanding newborn bloodspot screening ' , PLoS ONE , vol. 17 , no. 8 August , e0272585 . https://doi.org/10.1371/journal.pone.0272585Test
الإتاحة: https://doi.org/10.1371/journal.pone.0272585Test
https://research.vumc.nl/en/publications/ca871432-150e-454a-92c3-d7fb4ceaca86Test
http://www.scopus.com/inward/record.url?scp=85136133959&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: Hammond, Jennifer, Klapwijk, Jasmijn E., Riedijk, Sam, Lou, Stina, Ormond, Kelly, id_orcid:0 000-0002-1033-0818, Vogel, Ida, Hui, Lisa, Sziepe, Emma-Jane, Buchanan, James, Ingvoldstad-Malmgren, Charlotta, Johansson Soller, Maria, Harding, Eleanor, Hill, Melissa, Lewis, Celine
المصدر: PLoS ONE, 17 (1)
وصف الملف: application/application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/wos/000769158400010; http://hdl.handle.net/20.500.11850/583996Test
الإتاحة: https://doi.org/20.500.11850/583996Test
https://doi.org/10.3929/ethz-b-000583996Test
https://doi.org/10.1371/journal.pone.0261898Test
https://hdl.handle.net/20.500.11850/583996Test