المؤلفون: Yanyu Chen, Zhuhao Wu, Joseph Sutlive, Ke Wu, Lu Mao, Jiabao Nie, Xing-Zhong Zhao, Feng Guo, Zi Chen, Qinqin Huang

المصدر: Journal of Nanobiotechnology, Vol 20, Iss 1, Pp 1-31 (2022)

مصطلحات موضوعية: Microfluidics, Microtechnology, Biosensing, Noninvasive prenatal diagnosis, Fetal-nucleated red blood cells, Biotechnology, TP248.13-248.65, Medical technology, R855-855.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1477-3155

URL الوصول: https://doaj.org/article/c6df4f7d2b4d431ea43e00305d10ddf9

المؤلفون: Schimanski, B., Kräuchi, R., Stettler, J., Lejon Crottet, S., Niederhauser, C., Clausen, F.B., Fontana, S., Hodel, M., Amylidi-Mohr, S., Raio, L., Abbal, C., Henny, C.

المصدر: Biomedicines, vol. 11, no. 10

مصطلحات موضوعية: RH immunoglobulin prophylaxis, RH1 incompatibility, cell-free fetal DNA, hemolytic disease of the fetus and newborn (HDFN), noninvasive prenatal diagnosis

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37893020; info:eu-repo/semantics/altIdentifier/pissn/2227-9059; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E59032A7A5C68; https://serval.unil.ch/notice/serval:BIB_E59032A7A5C6; https://serval.unil.ch/resource/serval:BIB_E59032A7A5C6.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_E59032A7A5C6
https://doi.org/10.3390/biomedicines11102646
https://serval.unil.ch/resource/serval:BIB_E59032A7A5C6.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E59032A7A5C68

المؤلفون: Fokstuen, Siv, Quteineh, Lina, Schwitzgebel Luscher, Valérie, Koehler, Bettina, Blouin, Jean-Louis, Abramowicz, Marc, Nouspikel, Thierry

المصدر: ISSN: 0009-9163 ; Clinical genetics, vol. 104, no. 5 (2023) p. 505-515.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, info:eu-repo/classification/ddc/618, info:eu-repo/classification/ddc/576.5, Cell-free circulating DNA, Consanguinity, Fetal DNA, Monogenic disease, Noninvasive prenatal diagnosis, Pregnancy, Female, Humans, Noninvasive Prenatal Testing, Prenatal Diagnosis / methods, Genotype, DNA / genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/37434539; https://archive-ouverte.unige.ch/unige:173394; unige:173394

الاتاحة: https://archive-ouverte.unige.ch/unige:173394

المؤلفون: Ganye Zhao, Xiaofeng Wang, Lina Liu, Peng Dai, Xiangdong Kong

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Noninvasive prenatal diagnosis, Duchenne muscular dystrophy, Relative mutation dosage, Cell free DNA, cfBEST, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/08e9017b46f54308848b6bd95b145cd0

المؤلفون: Chao Chen, Min Chen, Yaping Zhu, Lu Jiang, Jia Li, Yaoshen Wang, Zhe Lu, Fengyu Guo, Hairong Wang, Zhiyu Peng, Yun Yang, Jun Sun

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Noninvasive prenatal diagnosis, Direct haplotype phasing, Targeted linked-read sequencing, Monogenic disease, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/26298e848a574fd4a5e807e26d63acbd

المؤلفون: Yayun Qin, Hui Xu, Jingmin Yang, Yiming Wu, Hui Li, Bo Wang, Lijun Liu, Ding Ren, Runhong Xu, Manman Li, Chengcheng Zhang, Jieping Song

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: haplotype, cell-free fetal DNA, BioNano optical mapping, noninvasive prenatal diagnosis, facioscapulohumeral muscular dystrophy type 1 (FSHD1), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1046096/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c108623b0e604f79b98a72b975d0afb2

المؤلفون: Xiao‐Yan Yang, Yan Meng, Yang‐Yang Wang, Yan‐Ping Lu, Qiu‐Hong Wang, Yan‐Qin You, Xiao‐Xiao Xie, Ling Bai, Nan Fang, Li‐Ping Zou

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)

مصطلحات موضوعية: autosomal dominant disease, cell‐free DNA, monogenic disorder, noninvasive prenatal diagnosis, tuberous sclerosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/76828e5ebd98493891141704d0445f02

المؤلفون: Tom Rabinowitz, Shira Deri-Rozov, Noam Shomron

المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 509-517 (2021)

مصطلحات موضوعية: Noninvasive prenatal diagnosis, Variant calling, NIPT, NIPD, cell-free DNA, cfDNA, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037020305572; https://doaj.org/toc/2001-0370

URL الوصول: https://doaj.org/article/6c7be39824a844cdac28546adf2a008c

المؤلفون: Chao Chen, Jun Sun, Yun Yang, Lu Jiang, Fengyu Guo, Yaping Zhu, Dan Li, Renhua Wu, Rong Lu, Mei Zhao, Fang Chen, Peixiang Ni, Zhihui He, Zhiyu Peng

المصدر: BioTechniques, Vol 68, Iss 3, Pp 117-121 (2020)

مصطلحات موضوعية: factor VIII, haplotype, hemophilia A, noninvasive prenatal diagnosis, targeted sequencing, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0736-6205; https://doaj.org/toc/1940-9818

URL الوصول: https://doaj.org/article/97c38eabfd67413e9b96a1bd2234225a

المؤلفون: Lingrong Kong, Shaojun Li, Zhenhua Zhao, Jun Feng, Guangquan Chen, Lina Liu, Weiqin Tang, Suqing Li, Feifei Li, Xiujuan Han, Di Wu, Haichuan Zhang, Luming Sun, Xiangdong Kong

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: cell-free DNA, duchenne muscular dystrophy, noninvasive prenatal diagnosis, haplotype, Bayes factor, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.791856/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/4dae7bb0be0143ac9819b4d66960d9e6

المؤلفون: Ganye Zhao (11736224), Xiaofeng Wang (119575), Lina Liu (227490), Peng Dai (1327728), Xiangdong Kong (534996)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Cancer, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Noninvasive prenatal diagnosis, Duchenne muscular dystrophy, Relative mutation dosage, Cell free DNA, cfBEST

Relation: https://figshare.com/articles/presentation/Additional_file_2_of_Noninvasive_prenatal_diagnosis_of_duchenne_muscular_dystrophy_in_five_Chinese_families_based_on_relative_mutation_dosage_approach/17058758

الاتاحة: https://doi.org/10.6084/m9.figshare.17058758.v1

المؤلفون: Ganye Zhao (11736224), Xiaofeng Wang (119575), Lina Liu (227490), Peng Dai (1327728), Xiangdong Kong (534996)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Cancer, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Noninvasive prenatal diagnosis, Duchenne muscular dystrophy, Relative mutation dosage, Cell free DNA, cfBEST

Relation: https://figshare.com/articles/presentation/Additional_file_3_of_Noninvasive_prenatal_diagnosis_of_duchenne_muscular_dystrophy_in_five_Chinese_families_based_on_relative_mutation_dosage_approach/17058761

الاتاحة: https://doi.org/10.6084/m9.figshare.17058761.v1

المؤلفون: Tom Rabinowitz, Noam Shomron

المصدر: Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 2463-2470 (2020)

مصطلحات موضوعية: Genome-wide, Noninvasive prenatal diagnosis, NIPD, NIPT, Monogenic disorders, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037020303871; https://doaj.org/toc/2001-0370

URL الوصول: https://doaj.org/article/9140a1bb69414f148551407ca7980372

المؤلفون: Schobers, Gaby, Koeck, Rebekka, Pellaers, Dominique, Stevens, Servi J C, Macville, Merryn V E, Paulussen, Aimée D C, Coonen, Edith, van den Wijngaard, Arthur, de Die-Smulders, Christine, de Wert, Guido, Brunner, Han G, Zamani Esteki, Masoud

المصدر: Schobers , G , Koeck , R , Pellaers , D , Stevens , S J C , Macville , M V E , Paulussen , A D C , Coonen , E , van den Wijngaard , A , de Die-Smulders , C , de Wert , G , Brunner , H G & Zamani Esteki , M 2021 , ' Liquid biopsy : state of reproductive medicine and beyond ' , Human Reproduction , vol. 36 , no. 11 , pp. 2824-2839 . https://doi.org/10.1093/humrep/deab206

مصطلحات موضوعية: Artificial Intelligence, Biomarkers, Tumor, Biopsy, Cell-Free Nucleic Acids, Humans, Liquid Biopsy, Neoplasms, Reproductive Medicine, preimplantation genetic testing, ART, EMBRYO CULTURE-MEDIUM, INCIDENTAL DETECTION, NONINVASIVE PRENATAL-DIAGNOSIS, MATERNAL PLASMA, GENE-EXPRESSION, GENOMIC DNA, CELL-FREE DNA, non-invasive prenatal testing, circulating cells, next generation sequencing, MITOCHONDRIAL-DNA, FREE FETAL DNA, CIRCULATING TUMOR-CELLS, spent embryo culture medium, IVF

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/1e7a67ee-5994-4b27-ab2e-cc5241a113b0
https://doi.org/10.1093/humrep/deab206

المؤلفون: Bourlard, Laura, Manigart, Yannick, donner, catherine, Smits, Guillaume, Désir, Julie, Migeotte, Isabelle, Pichon, Bruno

المصدر: Journal of perinatal medicine

مصطلحات موضوعية: Sciences bio-médicales et agricoles, cervix, fetal cells, noninvasive prenatal diagnosis

وصف الملف: 1 full-text file(s): application/pdf

Relation: uri/info:doi/10.1515/jpm-2021-0291; uri/info:pii/jpm-2021-0291; uri/info:pmid/34973051; uri/info:scp/85122319998; https://dipot.ulb.ac.be/dspace/bitstream/2013/338581/3/10.1515_jpm-2021-0291.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/338581

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/338581
https://dipot.ulb.ac.be/dspace/bitstream/2013/338581/3/10.1515_jpm-2021-0291.pdf

المؤلفون: Chao Chen (195669), Min Chen (147733), Yaping Zhu (6667352), Lu Jiang (115479), Jia Li (160557), Yaoshen Wang (3150402), Zhe Lu (1569028), Fengyu Guo (10106856), Hairong Wang (1694704), Zhiyu Peng (212557), Yun Yang (417125), Jun Sun (48981)

مصطلحات موضوعية: Genetics, Noninvasive prenatal diagnosis, Direct haplotype phasing, Targeted linked-read sequencing, Monogenic disease

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Noninvasive_prenatal_diagnosis_of_monogenic_disorders_based_on_direct_haplotype_phasing_through_targeted_linked-read_sequencing/16779840

الاتاحة: https://doi.org/10.6084/m9.figshare.16779840.v1

المؤلفون: Chao Chen (195669), Min Chen (147733), Yaping Zhu (6667352), Lu Jiang (115479), Jia Li (160557), Yaoshen Wang (3150402), Zhe Lu (1569028), Fengyu Guo (10106856), Hairong Wang (1694704), Zhiyu Peng (212557), Yun Yang (417125), Jun Sun (48981)

مصطلحات موضوعية: Genetics, Noninvasive prenatal diagnosis, Direct haplotype phasing, Targeted linked-read sequencing, Monogenic disease

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Noninvasive_prenatal_diagnosis_of_monogenic_disorders_based_on_direct_haplotype_phasing_through_targeted_linked-read_sequencing/16779846

الاتاحة: https://doi.org/10.6084/m9.figshare.16779846.v1

المؤلفون: Chao Chen (195669), Min Chen (147733), Yaping Zhu (6667352), Lu Jiang (115479), Jia Li (160557), Yaoshen Wang (3150402), Zhe Lu (1569028), Fengyu Guo (10106856), Hairong Wang (1694704), Zhiyu Peng (212557), Yun Yang (417125), Jun Sun (48981)

مصطلحات موضوعية: Genetics, Noninvasive prenatal diagnosis, Direct haplotype phasing, Targeted linked-read sequencing, Monogenic disease

Relation: https://figshare.com/articles/journal_contribution/Additional_file_4_of_Noninvasive_prenatal_diagnosis_of_monogenic_disorders_based_on_direct_haplotype_phasing_through_targeted_linked-read_sequencing/16779849

الاتاحة: https://doi.org/10.6084/m9.figshare.16779849.v1

المؤلفون: Ganye Zhao (11736224), Xiaofeng Wang (119575), Lina Liu (227490), Peng Dai (1327728), Xiangdong Kong (534996)

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Cancer, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Noninvasive prenatal diagnosis, Duchenne muscular dystrophy, Relative mutation dosage, Cell free DNA, cfBEST

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Noninvasive_prenatal_diagnosis_of_duchenne_muscular_dystrophy_in_five_Chinese_families_based_on_relative_mutation_dosage_approach/17058755

الاتاحة: https://doi.org/10.6084/m9.figshare.17058755.v1

المؤلفون: Amy Gerrish, Helen Jenkinson, Trevor Cole

المصدر: Cancers; Volume 13; Issue 7; Pages: 1570

مصطلحات موضوعية: retinoblastoma, cell-free DNA, liquid biopsy, noninvasive prenatal diagnosis

وصف الملف: application/pdf

Relation: Methods and Technologies Development; https://dx.doi.org/10.3390/cancers13071570

الاتاحة: https://doi.org/10.3390/cancers13071570