日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The European Certificate in Medical Genetics and Genomics (ECMGG)

欧洲医学遗传学和基因组学证书(ECMGG)

Turnpenny, Peter D; Pölsler, Laura; Moog, Ute; Tobias, Edward S; Peron, Angela; Boonen, Susanne E; Lynch, Bonnie; Berg, Jonathan

European training requirements for the specialty of medical genetics

欧洲医学遗传学专业的培训要求

Moog, Ute; Berg, Jonathan; Kerr, Siobhan; Turnpenny, Peter D; Verloes, Alain; Zschocke, Johannes

Pandemic-Induced Telework Divide of Federal Workforces

疫情引发的联邦雇员远程办公分化

Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A; Amor, David J; Kleefstra, Tjitske; Fisher, Simon E; Zweier, Christiane; Morgan, Angela T; Kim, Jungin

The need for recognition of core professional groups in genetics healthcare services in Europe

欧洲遗传医疗保健服务领域核心专业群体认可的必要性

Paneque, Milena; Liehr, Thomas; Serra Juhé, Clara; Moog, Ute; Melegh, Bela; Carreira, Isabel

Disorders Caused by Genetic Mosaicism

由基因嵌合体引起的疾病

Moog, Ute; Felbor, Ute; Has, Cristina; Zirn, Birgit

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

Beckwith-Wiedemann综合征中导致印记中心2甲基化缺失的KCNQ1变异频率

Eßinger, Carla; Karch, Stephanie; Moog, Ute; Fekete, György; Lengyel, Anna; Pinti, Eva; Eggermann, Thomas; Begemann, Matthias

POLR3A variants with striatal involvement and extrapyramidal movement disorder

POLR3A 变异伴纹状体受累和锥体外系运动障碍

Harting, Inga; Al-Saady, Murtadha; Krägeloh-Mann, Ingeborg; Bley, Annette; Hempel, Maja; Bierhals, Tatjana; Karch, Stephanie; Moog, Ute; Bernard, Geneviève; Huntsman, Richard; van Spaendonk, Rosalina M L; Vreeburg, Maaike; Rodríguez-Palmero, Agustí; Pujol, Aurora; van der Knaap, Marjo S; Pouwels, Petra J W; Wolf, Nicole I

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.

以非洲爪蟾为模型研究 Joubert 综合征:PIBF1 复合杂合变异的人类患者病例

Ott Tim, Kaufmann Lilian, Granzow Martin, Hinderhofer Katrin, Bartram Claus R, Theiß Susanne, Seitz Angelika, Paramasivam Nagarajan, Schulz Angela, Moog Ute, Blum Martin, Evers Christina M

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

单亲二体性作为隐性孟德尔遗传病的病因:中/大型NGS分析中诊断陷阱的快速简便解决方法

Erger, Florian; Burau, Karin; Elsässer, Michael; Zimmermann, Katharina; Moog, Ute; Netzer, Christian

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

FGFR1基因嵌合激活突变导致脑颅皮肤脂肪瘤病

Bennett, James T; Tan, Tiong Yang; Alcantara, Diana; Tétrault, Martine; Timms, Andrew E; Jensen, Dana; Collins, Sarah; Nowaczyk, Malgorzata J M; Lindhurst, Marjorie J; Christensen, Katherine M; Braddock, Stephen R; Brandling-Bennett, Heather; Hennekam, Raoul C M; Chung, Brian; Lehman, Anna; Su, John; Ng, SuYuen; Amor, David J; Majewski, Jacek; Biesecker, Les G; Boycott, Kym M; Dobyns, William B; O'Driscoll, Mark; Moog, Ute; McDonell, Laura M