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Journal Abstract Search

475 related items for PubMed ID: 31994750

  • 21. Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.
    Terasawa S, Kato A, Nishizawa H, Kato T, Yoshizawa H, Noda Y, Miyazaki J, Ito M, Sekiya T, Fujii T, Kurahashi H.
    Congenit Anom (Kyoto); 2019 Jan; 59(1):4-10. PubMed ID: 29542187
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  • 27. Fetal exome sequencing: yield and limitations in a tertiary referral center.
    Daum H, Meiner V, Elpeleg O, Harel T, collaborating authors.
    Ultrasound Obstet Gynecol; 2019 Jan; 53(1):80-86. PubMed ID: 29947050
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  • 31. A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
    Corsten-Janssen N, Bouman K, Diphoorn JCD, Scheper AJ, Kinds R, El Mecky J, Breet H, Verheij JBGM, Suijkerbuijk R, Duin LK, Manten GTR, van Langen IM, Sijmons RH, Sikkema-Raddatz B, Westers H, van Diemen CC.
    Prenat Diagn; 2020 Sep; 40(10):1300-1309. PubMed ID: 32627857
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  • 32. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
    Quinlan-Jones E, Lord J, Williams D, Hamilton S, Marton T, Eberhardt RY, Rinck G, Prigmore E, Keelagher R, McMullan DJ, Maher ER, Hurles ME, Kilby MD.
    Genet Med; 2019 May; 21(5):1065-1073. PubMed ID: 30293990
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  • 33. Genetic analysis of 55 cases with fetal skeletal dysplasia.
    Bai Y, Sun Y, Liu N, Wang L, Jiao Z, Hou Y, Duan H, Li Q, Zhu X, Meng J, Kong X.
    Orphanet J Rare Dis; 2022 Nov 09; 17(1):410. PubMed ID: 36352425
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  • 38. Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
    Huang Y, Liu C, Ding H, Wang Y, Yu L, Guo F, Li F, Shi X, Zhang Y, Yin A.
    Front Genet; 2023 Nov 09; 14():1032346. PubMed ID: 36923788
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  • 40. Trio exome sequencing is highly relevant in prenatal diagnostics.
    Gabriel H, Korinth D, Ritthaler M, Schulte B, Battke F, von Kaisenberg C, Wüstemann M, Schulze B, Friedrich-Freksa A, Pfeiffer L, Entezami M, Schröer A, Bürger J, Schwaibold EMC, Lebek H, Biskup S.
    Prenat Diagn; 2022 Jun 09; 42(7):845-851. PubMed ID: 34958143
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