Genetische Untersuchungen in der Pränataldiagnostik – Welche Diagnostik für welche Fehlbildung?

Author:

Stumm Markus,Wimmer Rainer,Isau Melanie

Publisher

Springer Science and Business Media LLC

Reference16 articles.

1. 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 (2022) Trio exome sequencing is highly relevant in prenatal diagnostics. Prenat Diagn 42:845–851

2. Goumy C, Ouedraogo GZ, Soler G, Eymard-Pierre E, Laurichesse H, Delabaere A, Gallot D, Bouchet P, Perthus I, Pebrel-Richard C, Gouas L, Salaun G, Salse J, Véronèse L, Tchirkov A (2023) Optical genome mapping for prenatal diagnosis: A prospective study. Clin Chim Acta 551:117594

3. Hillman SC, McMullan DJ, Williams D, Maher ER, Kilby MD (2012) Microarray comparative genomic hybridization in prenatal diagnosis: a review. Ultrasound Obstet Gynecol 40:385–391

4. Kähler C, Faber R, Geipel A, Heling KS, Kagan KO, Kozlowski P, Schramm T (2023) DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine. Ultraschall Med 44:269–279

5. Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER—Prenatal Assessment of Genomes and Exomes Consortium (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 393:747–757.

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3