المؤلفون: Becking, EC, Wirjosoekarto, SAM, Scheffer, PG, Huiskes, JVM, Remmelink, MJ, Sistermans, EA, Bax, CJ, Weiss, JM, Henneman, L, Bekker, MN

المصدر: Prenatal diagnosis. 41(10):1296-1304

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:147623673Test

المؤلفون: van der Meij, KRM, van de Pol, Qui Ying, Bekker, MN, Martin, L., Gitsels-van der Wal, JT, van Vliet-Lachotzki, Elsbeth H., Weiss, Janneke M., Galjaard, Robert-Jan H., Sistermans, EA, Macville, Merryn V. E., Henneman, L

المصدر: van der Meij , KRM , van de Pol , Q Y , Bekker , MN , Martin , L , Gitsels-van der Wal , JT , van Vliet-Lachotzki , E H , Weiss , J M , Galjaard , R-J H , Sistermans , EA , Macville , M V E & Henneman , L 2023 , ' Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program ' , European Journal of Human Genetics , vol. 31 , no. 5 , pp. 555-561 . https://doi.org/10.1038/s41431-022-01248-xTest

العلاقة: https://research.vumc.nl/en/publications/617337c2-6db9-4adf-b463-1fe484bf316bTest

الإتاحة: https://doi.org/10.1038/s41431-022-01248-xTest
https://research.vumc.nl/en/publications/617337c2-6db9-4adf-b463-1fe484bf316bTest
http://www.scopus.com/inward/record.url?scp=85143825708&partnerID=8YFLogxKTest

المؤلفون: Kohabir, KAV, Nooi, Lars, Brink, A., Brakenhoff, RH, Sistermans, EA, Wolthuis, RMF

المصدر: Kohabir , KAV , Nooi , L , Brink , A , Brakenhoff , RH , Sistermans , EA & Wolthuis , RMF 2023 , ' In Vitro CRISPR-Cas12a-Based Detection of Cancer-Associated TP53 Hotspot Mutations Beyond the crRNA Seed Region ' , The CRISPR Journal , vol. 6 , no. 2 , pp. 127-139 . https://doi.org/10.1089/crispr.2022.0077Test

العلاقة: https://research.vumc.nl/en/publications/614c56a5-13e8-40eb-915c-3050def7633fTest

الإتاحة: https://doi.org/10.1089/crispr.2022.0077Test
https://research.vumc.nl/en/publications/614c56a5-13e8-40eb-915c-3050def7633fTest
http://www.scopus.com/inward/record.url?scp=85158846479&partnerID=8YFLogxKTest

المؤلفون: Kohabir, KAV, Wolthuis, RMF, Sistermans, EA

المصدر: Kohabir , KAV , Wolthuis , RMF & Sistermans , EA 2021 , ' Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond ' , Journal of Biomedicine and Translational Research , vol. 7 , no. 1 , pp. 38-47 . https://doi.org/10.14710/jbtr.v7i1.10229Test

العلاقة: https://research.vumc.nl/en/publications/5a6bba19-739b-4fe4-8cbf-e6d4c31af849Test

الإتاحة: https://doi.org/10.14710/jbtr.v7i1.10229Test
https://research.vumc.nl/en/publications/5a6bba19-739b-4fe4-8cbf-e6d4c31af849Test

المؤلفون: Bekker, MN, Henneman, L, Macville, MV, Sistermans, EA, Galjaard, Robert-Jan

المصدر: Bekker , MN , Henneman , L , Macville , MV , Sistermans , EA & Galjaard , R-J 2020 , ' Benefit vs potential harm of genome-wide prenatal cfDNA testing requires further investigation and should not be dismissed based on current data ' , Ultrasound in Obstetrics & Gynecology , vol. 55 , no. 5 , pp. 695-696 . https://doi.org/10.1002/uog.22030Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/uog.22030Test
https://pure.eur.nl/en/publications/02522645-4c13-4e39-af72-5902603c8cbfTest
https://pure.eur.nl/ws/files/48323645/Repub_127273.pdfTest

المؤلفون: van der Meij, KRM, Bekker, MN, Martin, L., Gitsels-van der Wal, JT, van Vliet-Lachotzki, Elsbeth H., Macville, Merryn V. E., Weiss, MM, Galjaard, Robert-Jan H., Sistermans, EA, Henneman, L

المصدر: van der Meij , KRM , Bekker , MN , Martin , L , Gitsels-van der Wal , JT , van Vliet-Lachotzki , E H , Macville , M V E , Weiss , MM , Galjaard , R-J H , Sistermans , EA & Henneman , L 2023 , ' Abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, 19-23 June 2022 ' , Prenatal Diagnosis , vol. 43 , pp. 3-119 . https://doi.org/10.1002/pd.6281Test

العلاقة: https://research.vumc.nl/en/publications/7a4856c5-54cc-4c3e-b85f-7e16d435c449Test

الإتاحة: https://doi.org/10.1002/pd.6281Test
https://research.vumc.nl/en/publications/7a4856c5-54cc-4c3e-b85f-7e16d435c449Test
http://www.scopus.com/inward/record.url?scp=85145429898&partnerID=8YFLogxKTest

المؤلفون: Gitsels-van der Wal, JT, Henneman, L, Sistermans, EA, Haak, MC, Martin, L.

المساهمون: Midwifery Science, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Quality of Care

المصدر: Gitsels-van der Wal, JT, Henneman, L, Sistermans, EA, Haak, MC & Martin, L 2022, ' Prenatale screening: verleden, heden, toekomst ', De Verloskundige, vol. 3, no. 3 .
De Verloskundige, 3(3)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a22bfcac41d72b594ebc00917849c9a2Test
https://research.vumc.nl/en/publications/6b10d642-983b-4f07-83f3-70b3ffdfc131Test

المؤلفون: Opstal, D, van Maarle, MC, Lichtenbelt, K, Weiss, MM, Schuring-Blom, H, Bhola, SL, Hoffer, MJV, van Amsterdam, K, Macville, MV, Kooper, AJA, Faas, BHW, Govaerts, LCP, Tan-Sindhunata, GM, den Hollander, N, Feenstra, I, Galjaard, Robert-Jan, Oepkes, D, Ghesquiere, S, Brouwer, Rutger, Beulen, L, Bollen, S, Elferink, MG, Straver, R, Henneman, L, Page-Christiaens, GC, Sistermans, EA

المصدر: Opstal , D , van Maarle , MC , Lichtenbelt , K , Weiss , MM , Schuring-Blom , H , Bhola , SL , Hoffer , MJV , van Amsterdam , K , Macville , MV , Kooper , AJA , Faas , BHW , Govaerts , LCP , Tan-Sindhunata , GM , den Hollander , N , Feenstra , I , Galjaard , R-J , Oepkes , D , Ghesquiere , S , Brouwer , R , Beulen , L , Bollen , S , Elferink , MG , Straver , R , Henneman , L , ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/gim.2017.132Test
https://pure.eur.nl/en/publications/447bfa9e-08d5-4fbf-843d-a9ef2f5125c3Test
https://pure.eur.nl/ws/files/47908903/REPUB_106082-OA.pdfTest
http://hdl.handle.net/1765/106082Test

المؤلفون: Louwersheimer, E, Cohn-Hokke, PE, Pijnenburg, YAL, Weiss, MM, Sistermans, EA, Rozemuller, AJ, Hulsman, M, van Swieten, J.C., Duijn, Cornelia, Barkhof, F, Koene, T, Scheltens, P, van der Flier, WM, Holstege, H (Henne)

المصدر: Louwersheimer , E , Cohn-Hokke , PE , Pijnenburg , YAL , Weiss , MM , Sistermans , EA , Rozemuller , AJ , Hulsman , M , van Swieten , J C , Duijn , C , Barkhof , F , Koene , T , Scheltens , P , van der Flier , WM & Holstege , H 2017 , ' Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-epsilon 4 Homozygosity ' , Journal of Alzheimers Disease , vol. 56 , no. 1 , pp. 63-74 . ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.3233/jad-160091Test
https://pure.eur.nl/en/publications/87d0e536-c86b-40a1-9415-bae587fd5095Test
https://pure.eur.nl/ws/files/47799752/Repub_108348_O-A.pdfTest
http://hdl.handle.net/1765/108348Test

المؤلفون: Cohn-Hokke, PE, Holstege, H (Henne), Weiss, MM, van der Flier, WM, Barkhof, F, Sistermans, EA, Pijnenburg, YAL, van Swieten, J.C., Meijers-Heijboer, H, Scheltens, P

المصدر: Cohn-Hokke , PE , Holstege , H , Weiss , MM , van der Flier , WM , Barkhof , F , Sistermans , EA , Pijnenburg , YAL , van Swieten , J C , Meijers-Heijboer , H & Scheltens , P 2017 , ' A Novel CCM2 Variant in a Family With Non-Progressive Cognitive Complaints and Cerebral Microbleeds ' , American Journal of Medical Genetics Part B-Neuropsychiatric Genetics , vol. 174 , no. 3 , pp. 220-226 . https://doi.org/10.1002/ajmg.b.32468Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/ajmg.b.32468Test
https://pure.eur.nl/en/publications/7bc410f1-7caa-4a9c-a0b6-2738407b91eeTest
https://pure.eur.nl/ws/files/47783412/REPUB_96464.pdfTest
http://hdl.handle.net/1765/96464Test