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1دورية أكاديمية
المؤلفون: Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Palle Schelde, Katarina Ravn, Christian Liebst Toft, Maria Bach Laursen, Jakob Hedegaard, Inga Baasch Christensen, Bolette Hestbek Nicolaisen, Lotte Andreasen, Lars Henning Pedersen, Ida Vogel, Dorte Launholt Lildballe
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: noninvasive prenatal testing, fetal cells, extravillous trophoblasts, monogenic disorders, repeat expansion disorders, clinical interpretation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1188472/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Line Dahl Jeppesen, Tina Duelund Hjortshøj, Johnny Hindkjær, Lotte Hatt, Olav Bjørn Petersen, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Rikke Christensen, Dorte L. Lildballe, Ida Vogel
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: cell-based NIPT, circulating fetal cells, extravillous trophoblasts, cell-free NIPT, sex chromosome anomaly, twin pregnancy, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.842092/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Lotte Hatt, Ripudaman Singh, Rikke Christensen, Katarina Ravn, Inga B Christensen, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Mathias Kølvraa, Palle Schelde, Lotte Andreassen, Richard Farlie, Niels Uldbjerg, Ida Vogel
المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 2561-2567 (2020)
مصطلحات موضوعية: 3p deletion, 3p26 deletion, cell‐based noninvasive prenatal testing, copy number variation, Noninvasive prenatal testing, Prader‐Willi syndrome, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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4دورية أكاديمية
المؤلفون: Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Sara Markholt, Dorte L. Lildballe, Ida Vogel
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: cell-based noninvasive prenatal testing, sex chromosomal aneuploidies, turner mosaic, non-invasive prenatal testing, extravillous trophoblast, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.741752/fullTest; https://doaj.org/toc/1664-8021Test
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5دورية أكاديمية
المؤلفون: Lone Sunde, Ripudaman Singh, Katarina Ravn, Palle Schelde, Estrid Stæhr Hansen, Niels Uldbjerg, Isa Niemann, Lotte Hatt
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
مصطلحات موضوعية: androgenetic, cell‐free nucleic acids, circulating neoplasm cells, other circulating cells, diploidy, genotyping techniques, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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6مؤتمر
المؤلفون: Line Dahl Jeppesen, Tina Duelund Hjortshøj, Johnny Hindkjær, Lotte Hatt, Olav Bjørn Petersen, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Rikke Christensen, Dorte L. Lildballe, Ida Vogel
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, cell-based NIPT, circulating fetal cells, extravillous trophoblasts, cell-free NIPT, sex chromosome anomaly, twin pregnancy, klinefelter syndrome
الإتاحة: https://doi.org/10.3389/fgene.2022.842092.s001Test
https://figshare.com/articles/presentation/Presentation1_Cell-Based_NIPT_Detects_47_XXY_Genotype_in_a_Twin_Pregnancy_pptx/19346516Test -
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المؤلفون: Lotte Hatt, Katarina Ravn, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Inga Baasch Christensen, Ripudaman Singh, Palle Schelde, Simon Horsholt Thomsen, Rikke Christensen, Marianne Sinding, Laura Vase, Marianne Oestergaard, Marie Bender Ruggard, Hanne S. Jensen, Helle Mogensen, Niels Uldbjerg, Naja Becher, Sara Markholt, Puk Sandager, Lars Henning Pedersen, Ida Vogel
المصدر: Hatt, L, Ravn, K, Dahl Jeppesen, L, Hestbek Nicolaisen, B, Baasch Christensen, I, Singh, R, Schelde, P, Horsholt Thomsen, S, Christensen, R, Sinding, M, Vase, L, Oestergaard, M, Bender Ruggard, M, Jensen, H S, Mogensen, H, Uldbjerg, N, Becher, N, Markholt, S, Sandager, P, Henning Pedersen, L & Vogel, I 2023, ' How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark ', Prenatal Diagnosis, vol. 43, no. 7, pp. 854-864 . https://doi.org/10.1002/pd.6387Test
Hatt, L, Ravn, K, Dahl Jeppesen, L, Hestbek Nicolaisen, B, Baasch Christensen, I, Singh, R, Schelde, P, Horsholt Thomsen, S, Christensen, R, Sinding, M, Vase, L, Oestergaard, M, Bender Ruggard, M, Jensen, H S, Mogensen, H, Uldbjerg, N, Becher, N, Markholt, S, Sandager, P, Henning Pedersen, L & Vogel, I 2023, ' How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark ', Prenatal Diagnosis . https://doi.org/10.1002/pd.6387Testمصطلحات موضوعية: Chorionic Villi Sampling, DNA Copy Number Variations, Mosaicism, Pregnancy, Denmark, Prenatal Diagnosis, Obstetrics and Gynecology, Humans, Female, Aneuploidy, Trisomy/diagnosis, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::019b06e0e878e82bce141d7fdef2abbfTest
https://pure.au.dk/portal/da/publications/how-does-cellbased-noninvasive-prenatal-test-nipt-perform-against-chorionic-villus-sampling-and-cellfree-nipt-in-detecting-trisomies-and-copy-number-variationsTest(78d72510-337f-49de-ab1a-b5099380614c).html -
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المؤلفون: Line Dahl Jeppesen, Dorte Launholt Lildballe, Lotte Hatt, Jakob Hedegaard, Ripudaman Singh, Christian Liebst Frisk Toft, Palle Schelde, Anders Sune Pedersen, Michael Knudsen, Ida Vogel
المصدر: Jeppesen, L D, Lildballe, D L, Hatt, L, Hedegaard, J, Singh, R, Toft, C L F, Schelde, P, Pedersen, A S, Knudsen, M & Vogel, I 2023, ' Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts : Detection of the 50 most common disease-causing variants ', Prenatal Diagnosis, vol. 43, no. 1, pp. 3-13 . https://doi.org/10.1002/pd.6276Test
مصطلحات موضوعية: Fetus, Pregnancy, Prenatal Diagnosis/methods, Noninvasive Prenatal Testing, Obstetrics and Gynecology, Humans, Female, Cystic Fibrosis/diagnosis, Genetics (clinical), Genetic Testing/methods, Trophoblasts
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c69e4474a5ec00a55d1968248f3fffTest
https://vbn.aau.dk/ws/files/510206222/Jeppesen_et_al_2023_Noninvasive_prenatal_screening_for_cystic_fibrosis_using_circulating_trophoblasts.pdfTest -
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المؤلفون: Line Dahl Jeppesen, Lotte Hatt, Ripudaman Singh, Palle Schelde, Katarina Ravn, Christian Liebst Toft, Maria Bach Laursen, Jakob Hedegaard, Inga Baasch Christensen, Bolette Hestbek Nicolaisen, Lotte Andreasen, Lars Henning Pedersen, Ida Vogel, Dorte Launholt Lildballe
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, noninvasive prenatal testing, fetal cells, extravillous trophoblasts, monogenic disorders, repeat expansion disorders, clinical interpretation
الإتاحة: https://doi.org/10.3389/fgene.2023.1188472.s001Test
https://figshare.com/articles/dataset/Table1_Clinical_interpretation_of_cell-based_non-invasive_prenatal_testing_for_monogenic_disorders_including_repeat_expansion_disorders_potentials_and_pitfalls_pdf/24202872Test -
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المؤلفون: Lotte Hatt, Bolette Hestbek Nicolaisen, Helle Mogensen, Steffen Sommer, Palle Schelde, Ida Vogel, Inge Søkilde Pedersen, Mathias Kølvraa, Henrik Okkels, Christian Liebst Frisk Toft, Ulrik Schiøler Kesmodel, Richard Farlie, Line Dahl Jeppesen, Anja Ernst, Inga Baasch Christensen, Birte Degn, Katarina Ravn, Hans Jakob Ingerslev, Kristín Rós Kjartansdóttir, Marianne Louise Vang Østergård, Niels Uldbjerg, Ripudaman Singh, Ann Nygaard Jensen
المصدر: Toft, C L F, Ingerslev, H J, Kesmodel, U S, Hatt, L, Singh, R, Ravn, K, Nicolaisen, B H, Christensen, I B, Kølvraa, M, Jeppesen, L D, Schelde, P, Vogel, I, Uldbjerg, N, Farlie, R, Sommer, S, Østergård, M L V, Jensen, A N, Mogensen, H, Kjartansdóttir, K R, Degn, B, Okkels, H, Ernst, A & Pedersen, I S 2021, ' Cell-based non-invasive prenatal testing for monogenic disorders : confirmation of unaffected fetuses following preimplantation genetic testing ', Journal of Assisted Reproduction and Genetics, vol. 38, no. 8, pp. 1959-1970 . https://doi.org/10.1007/s10815-021-02104-5Test
Journal of Assisted Reproduction and Geneticsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Noninvasive Prenatal Testing, DNA Mutational Analysis, Cell, Chorionic villus sampling, Biology, Prenatal testing, STR markers, Andrology, 03 medical and health sciences, Fetus, 0302 clinical medicine, Genetics, medicine, Humans, Preimplantation Diagnosis, Genetics (clinical), Genetic testing, Technological Innovations, Pregnancy, 030219 obstetrics & reproductive medicine, PGT-M, medicine.diagnostic_test, Genetic Carrier Screening, Genetic Diseases, Inborn, Obstetrics and Gynecology, Embryo, General Medicine, Aneuploidy, Embryo Transfer, medicine.disease, Human genetics, Pedigree, Germ Cells, 030104 developmental biology, medicine.anatomical_structure, Reproductive Medicine, cbNIPT, Microsatellite, Female, Microsatellite Repeats, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2edcf80da04180683417130d568d9cbTest
https://doi.org/10.1007/s10815-021-02104-5Test