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Medizinische Genetik

IF1.4
论文数31
被引数
期刊论文 31
发表时间
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Diagnosis-Specific Medicine for Genetic Diseases. FindMe2care-the contact platform for individuals affected by rare genetic diseases - has already been utilized by nearly 1,000 patients针对遗传疾病的诊断特异性药物。FindMe2care——受罕见遗传疾病影响个体的联系平台——已被近1000名患者使用
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Prenatal genetic testing and potential consequences产前基因检测及其潜在后果
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deleteJauch, Sarah F.; Klaritsch, Philipp
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Fetal pathology meets clinical genetics - on the value of a comprehensive postmortem examination胎儿病理学与临床遗传学相结合——论全面尸检的价值
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deleteSprung, Susanne; Messner, Martina; Lunzer, Renate; Mutz-Dehbalaie, Irene; Dottelmayer, Patricia; Freund-Unsinn, Karin; Fauth, Christine
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Prenatal diagnosis - where do we go from here?产前诊断——我们接下来该走向何方？
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deleteFauth, Christine; Verheyen, Sarah
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Placental mosaicism in prenatal diagnosis产前诊断中的胎盘嵌合现象
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Deep phenotyping using foetal MRI利用胎儿MRI进行深度表型分析
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deleteKasprian, Gregor; Mitter, Christian; Moser, Philipp
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Discordant fetal anomalies in monochorionic multiple pregnancies单绒毛膜多胎妊娠中的胎儿异常不一致性
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deleteSchuligoi, Heidrun; Juch, Herbert; Klaritsch, Philipp
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Indication and diagnostic method selection for invasive prenatal genetic testing - review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing侵入性产前基因检测的适应症与诊断方法选择——文献综述及奥地利产前基因检测共识会议结论
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deleteVerheyen, Sarah; Pertl, Barbara; Bierbaumer, Sophie; Fazelnia, Claudius; Jauch, Sarah Francesca; Klaritsch, Philipp; Krampl-Bettelheim, Elisabeth; Kuhberger, Stefan; Reischer, Theresa; Reiter, Ricarda; Scharnreitner, Iris; Steiner, Horst; Zschocke, Johannes; Pfeifer, Mateja
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Announcement of the 2nd DACH Conference on Rare Diseases: Welcome Address by the Conference Organizers from 24th to 25th September 2026, Bonn第二届DACH罕见病会议公告：由会议组织者于2026年9月24日至25日在波恩发表的欢迎致辞
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Conference Report Syndrome Day from 12th to 13th September 2025 in Essen: What the Exome Conceals from us2025年9月12日至13日在埃森举行的染色体外显子综合征日会议报告：外显子所隐藏的内容
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Job description for genetic consultants in interprofessional collaboration with specialists in human genetics/medical genetics遗传咨询师的岗位职责：与人类遗传学/医学遗传学专家进行跨专业合作
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Autosomal dominant tubulointerstitial kidney disease - from a diagnostic desert to a more nuanced landscape of roses and thorns常染色体显性小管间质性肾病——从诊断荒漠到更具细微差别的玫瑰花与荆棘景观
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deleteWenzel, Andrea; Muller, Roman U.; Erger, Florian; Beck, Bodo B.
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Obituary for Prof. Dr. med. Traute Schroeder-Kurth, born in Heidelberg on 16th May 1930, died on 22nd August 2025悼念特拉特·施罗德-库尔特教授博士（医学博士），1930年5月16日生于海德堡，2025年8月22日逝世
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deleteKalb, Reinhard; Hohn, Holger; Schindler, Detlev
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GfH Association News. Annual Reports 2025 from the GfH Commissions and GfH Working Groups德国健康促进协会新闻。2025年GfH委员会和GfH工作组的年度报告
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deleteKuchler, Alma
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Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms不明原因慢性肾脏病（CKDx）中的基因检测：临床见解与演变中的诊断模式
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deleteSimons, Matias; Halbritter, Jan
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Announcement: Syndrome Day 2026-Welcome Address by the Conference Organizers from 25th to 26th September 2026, Bonn公告：综合征日2026—会议由组委会于2026年9月25日至26日在波恩致欢迎辞
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deleteMangold, Elisabeth; Kreiss, Martina
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Genetic kidney diseases - from discovery to precision care遗传性肾脏疾病——从发现到精准护理
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Conference report GfH Junior Academy 2025. Young human geneticists at Buchenau Castle: Exchange, networking and new perspectives2025年GfH青年学院会议报告：年轻人类遗传学家在布赫瑙城堡：交流、网络建设与新视野
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deleteSchumann, Isabell; Salchow, Hanna; Ahting, Simone; Karnstedt, Maike; Meyer, Robert; Tibbe, Debora; Krey-Grauert, Ilona; Schaffeldt, Anna; Faust, Helene; Pieh, Daniel
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Genetics of CAKUTCAKUT的遗传学
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deleteHilger, Alina C.; Westland, Rik; Hoefele, Julia
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The kidney in genetic metabolic disorders遗传代谢病中的肾脏
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deleteSchumann, Anke; Schultheiss, Ulla T.
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