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1Academic Journal
المؤلفون: Eggenhuizen, Geerke M., Go, Attie T. J. I., Hoffer, Mariette J. V., Goedegebuur-Zwalua, Eveline, Srebniak, Malgorzata I., Van Opstal, Diane
المصدر: Eggenhuizen , G M , Go , A T J I , Hoffer , M J V , Goedegebuur-Zwalua , E , Srebniak , M I & Van Opstal , D 2024 , ' Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing : Is There an Association Between Mosaic Ratio and Pregnancy Outcome? ' , Prenatal Diagnosis , vol. 44 , no. 12 , pp. 1462-1469 . https://doi.org/10.1002/pd.6680
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/9b9abf0e-7983-4ce6-90ae-d73d664d3b85
https://doi.org/10.1002/pd.6680
https://pure.eur.nl/ws/files/170963085/Confined_Placental_Mosaicism_Detected_With_Non-Invasive_Prenatal_Testing.pdf
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:001329715100001&DestLinkType=FullRecord&DestApp=WOS_CPL -
2Academic Journal
المؤلفون: Skojo, Matea, Srebniak, Malgorzata I., Henneman, Lidewij, Sistermans, Erik A., van der Meij, Karuna R.M.
المصدر: Best Practice & Research Clinical Obstetrics & Gynaecology ; volume 97, page 102543 ; ISSN 1521-6934
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3Academic Journal
المؤلفون: Diderich, Karin E. M., Bruggenwirth, Hennie T., Joosten, Marieke, Thurik, Florentine, Mijalkovic, Jona, Polak, Marike, Kromosoeto, Joan, Somers‐Bolman, Galhana M., van den Born, Myrthe, Drost, Mark, Galjaard, Robert Jan H., Galjaard, Sander, Hoefsloot, Lies H., Knapen, Maarten F. C. M., van Minkelen, Rick, van der Schoot, Vyne, van Slegtenhorst, Marjon A., Sleutels, Frank, Stuurman, Kyra E., Weerts, Marjolein J. A., Go, Attie T. J. I., Wilke, Martina, Srebniak, Malgorzata I.
المصدر: Prenatal Diagnosis ; ISSN 0197-3851 1097-0223
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4Academic Journal
المؤلفون: Rybak-Krzyszkowska, Magda, Madetko-Talowska, Anna, Szewczyk, Katarzyna, Bik-Multanowski, Mirosław, Sakowicz, Agata, Stejskal, David, Trková, Marie, Smetanová, Dagmar, Serafim, Sílvia, Correia, Hildeberto, Nevado, Julian, Angeles Mori, Maria, Mansilla, Elena, Rutkowska, Lena, Kucińska, Agata, Gach, Agnieszka, Huras, Hubert, Kołak, Magdalena, Srebniak, Malgorzata Ilona
المصدر: Rybak-Krzyszkowska , M , Madetko-Talowska , A , Szewczyk , K , Bik-Multanowski , M , Sakowicz , A , Stejskal , D , Trková , M , Smetanová , D , Serafim , S , Correia , H , Nevado , J , Angeles Mori , M , Mansilla , E , Rutkowska , L , Kucińska , A , Gach , A , Huras , H , Kołak , M & Srebniak , M I 2024 , ' Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? -A Multicenter Retrospective Clinical Cohort Study ....
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Faas, Brigitte H W, Astuti, Galuh, Melchers, Willem J G, Reuss, Annette, Gilissen, Christian, Macville, Merryn V E, Ghesquiere, Stijn A I, Houben, Leonieke M H, Srebniak, Malgorzata Ilona, Geeven, Geert, Rahamat-Langendoen, Janette C, Sistermans, Erik A, Linthorst, Jasper
المصدر: Faas , B H W , Astuti , G , Melchers , W J G , Reuss , A , Gilissen , C , Macville , M V E , Ghesquiere , S A I , Houben , L M H , Srebniak , M I , Geeven , G , Rahamat-Langendoen , J C , Sistermans , E A & Linthorst , J 2024 , ' Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing ' , EBioMedicine , vol. 100 , 104983 , pp. 104983 . https://doi.org/10.1016/j.ebiom.2024.104983
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6Academic Journal
المؤلفون: Eggenhuizen, Geerke M., Go, Attie T. J. I., Sauter, Zoe, Hoffer, Mariette J. V., Haak, Monique C., Geeven, Geert, Diderich, Karin E. M., Joosten, Marieke, van den Born, Myrthe, Srebniak, Malgorzata I., Van Opstal, Diane
المصدر: Eggenhuizen , G M , Go , A T J I , Sauter , Z , Hoffer , M J V , Haak , M C , Geeven , G , Diderich , K E M , Joosten , M , van den Born , M , Srebniak , M I & Van Opstal , D 2024 , ' The role of confined placental mosaicism in fetal growth restriction : A retrospective cohort study ' , Prenatal Diagnosis , vol. 44 , no. 3 , pp. 289-296 . https://doi.org/10.1002/pd.6533
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/91f527ef-f45a-4af2-abf5-6073db016d18
https://doi.org/10.1002/pd.6533
https://pure.eur.nl/ws/files/136771016/Prenatal_Diagnosis_-_2024_-_Eggenhuizen_-_The_role_of_confined_placental_mosaicism_in_fetal_growth_restriction_A.pdf
http://www.scopus.com/inward/record.url?scp=85185141265&partnerID=8YFLogxK -
7Academic Journal
المؤلفون: Donze, Stephany H., Srebniak, Malgorzata I., Diderich, Karin E. M., van den Born, Myrthe, Galjaard, Robert-Jan, Govaerts, Lutgarde C. P., van der Schoot, Vyne, Knapen, Maarten F. C. M., Joosten, Marieke, Van Opstal, Diane
المصدر: Donze , S H , Srebniak , M I , Diderich , K E M , van den Born , M , Galjaard , R-J , Govaerts , L C P , van der Schoot , V , Knapen , M F C M , Joosten , M & Van Opstal , D 2024 , ' Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results ' , Prenatal Diagnosis , vol. 44 , no. 4 , pp. 401-408 . https://doi.org/10.1002/pd.6499
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/c43c44af-33ed-4142-b6f7-25a9875ed596
https://doi.org/10.1002/pd.6499
https://pure.eur.nl/ws/files/134140335/Prenatal_Diagnosis_-_2023_-_Donze_-_Limited_additional_value_of_karyotyping_cultured_amniotic_fluid_cell_colonies_in.pdf
http://www.scopus.com/inward/record.url?scp=85180443422&partnerID=8YFLogxK -
8Academic Journal
المؤلفون: Husen, Sofie C., Visser, Eline F., Srebniak, Malgorzata I., Diderich, Karin E.M., Groenenberg, Irene A.L., Steegers-Theunissen, Régine P.M., Go, Attie T.J.I.
المصدر: Husen , S C , Visser , E F , Srebniak , M I , Diderich , K E M , Groenenberg , I A L , Steegers-Theunissen , R P M & Go , A T J I 2024 , ' Prenatal counseling of an isolated fetal small head circumference during the second trimester expert ultrasound examination ' , European Journal of Obstetrics and Gynecology and Reproductive Biology , vol. 294 , pp. 58-64 . https://doi.org/10.1016/j.ejogrb.2024.01.010
وصف الملف: application/pdf
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9Academic Journal
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.2023.104884
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/9971203e-3eae-458d-a93d-21c5c5978975
https://doi.org/10.1016/j.ejmg.2023.104884
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_.pdf
http://www.scopus.com/inward/record.url?scp=85177065122&partnerID=8YFLogxK -
10Academic Journal
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.S411185
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11Academic Journal
المؤلفون: van Bever, Yolande, Groenenberg, Irene A. L., Knapen, Maarten F. C. M., Dessens, Arianne B., Hannema, Sabine E., Wolffenbuttel, Katja P., Diderich, Karin E. M., Hoefsloot, Lies H., Srebniak, Malgorzata I., Bruggenwirth, Hennie T.
المصدر: van Bever , Y , Groenenberg , I A L , Knapen , M F C M , Dessens , A B , Hannema , S E , Wolffenbuttel , K P , Diderich , K E M , Hoefsloot , L H , Srebniak , M I & Bruggenwirth , H T 2023 , ' Prenatal ultrasound finding of atypical genitalia : Counseling, genetic testing and outcomes ' , Prenatal Diagnosis , vol. 43 , no. 2 , pp. 162-182 . https://doi.org/10.1002/pd.6205
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12Academic Journal
المؤلفون: van Zutven, Laura J.C.M., Mijalkovic, Jona, van Veghel-Plandsoen, Monique, Goense, Margaret, Polak, Marike, Knapen, Maarten F.C.M., de Weerd, Sabina, Joosten, Marieke, Diderich, Karin E.M., Hoefsloot, Lies H., Van Opstal, Diane, Srebniak, Malgorzata I.
المصدر: van Zutven , L J C M , Mijalkovic , J , van Veghel-Plandsoen , M , Goense , M , Polak , M , Knapen , M F C M , de Weerd , S , Joosten , M , Diderich , K E M , Hoefsloot , L H , Van Opstal , D & Srebniak , M I 2023 , ' What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping? ' , Molecular Cytogenetics , vol. 16 , ....
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/57706727-0d59-4ce5-8944-7b71d4b35617
https://doi.org/10.1186/s13039-023-00657-x
https://pure.eur.nl/ws/files/104362479/What_proportion_of_couples_with_a_history_of_recurrent_pregnancy_loss_and_with_a_balanced_rearrangement_in_one_parent_can_potentially_be_identified_through_cell-free_DNA_genotyping.pdf
http://www.scopus.com/inward/record.url?scp=85173965303&partnerID=8YFLogxK -
13Academic Journal
المؤلفون: Eikenboom, Ellis L., Wilting, Saskia M., Deger, Teoman, Srebniak, Malgorzata I., Van Veghel-Plandsoen, Monique, Boers, Ruben G., Boers, Joachim B., van IJcken, Wilfred F.J., Gribnau, Joost H., Atmodimedjo, Peggy, Dubbink, Hendrikus J., Martens, John W.M., Spaander, Manon C.W., Wagner, Anja
المصدر: Eikenboom , E L , Wilting , S M , Deger , T , Srebniak , M I , Van Veghel-Plandsoen , M , Boers , R G , Boers , J B , van IJcken , W F J , Gribnau , J H , Atmodimedjo , P , Dubbink , H J , Martens , J W M , Spaander , M C W & Wagner , A 2023 , ' Liquid Biopsies for Colorectal Cancer and Advanced Adenoma Screening and Surveillance : What to Measure? ' , Cancers , vol. 15 , no. 18 , 4607 ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/ba1a72c1-a65e-40eb-8cb4-5779c213360c
https://doi.org/10.3390/cancers15184607
https://pure.eur.nl/ws/files/102513088/Liquid_Biopsies_for_Colorectal_Cancer_and_Advanced_Adenoma_Screening_and_Surveillance.pdf
http://www.scopus.com/inward/record.url?scp=85172759282&partnerID=8YFLogxK -
14Academic Journal
المؤلفون: Levink, Iris J.M., Srebniak, Malgorzata I., De Valk, Walter G., van Veghel-Plandsoen, Monique M., Wagner, Anja, Cahen, Djuna L., Fuhler, Gwenny M., Bruno, Marco J.
المصدر: Levink , I J M , Srebniak , M I , De Valk , W G , van Veghel-Plandsoen , M M , Wagner , A , Cahen , D L , Fuhler , G M & Bruno , M J 2023 , ' An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer ' , International Journal of Molecular Sciences , vol. 24 , no. 6 , 5097 . https://doi.org/10.3390/ijms24065097
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/be221b3b-fc68-40b6-b9c7-54ecb3d46fca
https://doi.org/10.3390/ijms24065097
https://pure.eur.nl/ws/files/91752975/An_8q24_Gain_in_Pancreatic_Juice_Is_a_Candidate_Biomarker_for_the_Detection_of_Pancreatic_Cancer.pdf
http://www.scopus.com/inward/record.url?scp=85151109779&partnerID=8YFLogxK -
15Academic Journal
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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16Academic Journal
المؤلفون: Eggenhuizen, Geerke M., Go, Attie T. J. I., Hoffer, Mariëtte J. V., Goedegebuur‐Zwalua, Eveline, Srebniak, Malgorzata I., Van Opstal, Diane
المصدر: Prenatal Diagnosis; Nov2024, Vol. 44 Issue 12, p1462-1469, 8p
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17Electronic Resource
المؤلفون: Skojo, Matea, Srebniak, Malgorzata I., Henneman, Lidewij, Sistermans, Erik A., van der Meij, Karuna R.M.
المصدر: Skojo , M , Srebniak , M I , Henneman , L , Sistermans , E A & van der Meij , K R M 2024 , ' Implementing non-invasive prenatal testing in a national screening program : Lessons learned from the TRIDENT studies ' , Best Practice and Research: Clinical Obstetrics and Gynaecology , vol. 97 , 102543 .
مصطلحات الفهرس: article
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18Electronic Resource
المؤلفون: Faas, Brigitte H.W., Astuti, Galuh, Melchers, Willem J.G., Reuss, Annette, Gilissen, Christian, Macville, Merryn V.E., Ghesquiere, Stijn A.I., Houben, Leonieke M.H., Srebniak, Malgorzata Ilona, Geeven, Geert, Rahamat-Langendoen, Janette C., Sistermans, Erik A., Linthorst, Jasper
المصدر: Faas , B H W , Astuti , G , Melchers , W J G , Reuss , A , Gilissen , C , Macville , M V E , Ghesquiere , S A I , Houben , L M H , Srebniak , M I , Geeven , G , Rahamat-Langendoen , J C , Sistermans , E A & Linthorst , J 2024 , ' Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing ' , EBioMedicine , vol. 100 , 104983 .
مصطلحات الفهرس: article
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19Academic Journal
المؤلفون: van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., Polak, Marike G., Jehee, Fernanda S., Schuring-Blom, Heleen, Stevens, Servi J.C., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Meij, Karuna R.M., van Maarle, Merel C., Vernimmen, Vivian, van Zelderen-Bhola, Shama L., van Ravesteyn, Nicolien T., Knapen, Maarten F.C.M., Macville, Merryn V.E., Galjaard, Robert Jan H.
المصدر: The Dutch NIPT Consortium , van Prooyen Schuurman , L , Sistermans , E A , Van Opstal , D , Henneman , L , Bekker , M N , Bax , C J , Pieters , M J , Bouman , K , de Munnik , S , den Hollander , N S , Diderich , K E M , Faas , B H W , Feenstra , I , Go , A T J I , Hoffer , M J V , Joosten , M , Komdeur , F L , Lichtenbelt , K D , Lombardi ....
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20Academic Journal
المؤلفون: Heesterbeek, Catharina J., Aukema, Sietse M., Galjaard, Robert Jan H., Boon, Elles M.J., Srebniak, Malgorzata I., Bouman, Katelijne, Faas, Brigitte H.W., Govaerts, Lutgarde C.P., Hoffer, Mariëtte J.V., Den Hollander, Nicolette S., Lichtenbelt, Klaske D., Van Maarle, Merel C., Van Prooyen Schuurman, Lisanne, Van Rij, Maartje C., Schuring-Blom, G. Heleen, Stevens, Servi J.C., Tan-Sindhunata, Gita, Zamani Esteki, Masoud, De Die-Smulders, Christine E.M., Tjan-Heijnen, Vivianne C.G., Henneman, Lidewij, Sistermans, Erik A., MacVille, Merryn V.E.
المصدر: Heesterbeek , C J , Aukema , S M , Galjaard , R J H , Boon , E M J , Srebniak , M I , Bouman , K , Faas , B H W , Govaerts , L C P , Hoffer , M J V , Den Hollander , N S , Lichtenbelt , K D , Van Maarle , M C , Van Prooyen Schuurman , L , Van Rij , M C , Schuring-Blom , G H , Stevens , S J C , Tan-Sindhunata , G , Zamani Esteki , M , De ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being