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

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

由ASXL3基因功能缺失变异引起的贝恩布里奇-罗珀斯综合征:一种可识别的疾病

Kuechler, Alma; Czeschik, Johanna Christina; Graf, Elisabeth; Grasshoff, Ute; Hüffmeier, Ulrike; Busa, Tiffany; Beck-Woedl, Stefanie; Faivre, Laurence; Rivière, Jean-Baptiste; Bader, Ingrid; Koch, Johannes; Reis, André; Hehr, Ute; Rittinger, Olaf; Sperl, Wolfgang; Haack, Tobias B; Wieland, Thomas; Engels, Hartmut; Prokisch, Holger; Strom, Tim M; Lüdecke, Hermann-Josef; Wieczorek, Dagmar

Cantú Syndrome Associated with Ovarian Agenesis

坎图综合征伴卵巢发育不全

Fryssira, Helena; Psoni, Stavroula; Amenta, Styliani; Tsoutsou, Eirini; Sofocleous, Christalena; Manolakos, Emmanouil; Gavra, Maria; Lüdecke, Hermann-Joseph; Czeschik, Johanna-Christina

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

14q32.2染色体上的新型微缺失提示非编码RNA可能在Kagami-Ogata综合征中发挥作用。

van der Werf, Ilse M; Buiting, Karin; Czeschik, Christina; Reyniers, Edwin; Vandeweyer, Geert; Vanhaesebrouck, Piet; Lüdecke, Hermann-Josef; Wieczorek, Dagmar; Horsthemke, Bernhard; Mortier, Geert; Leroy, Jules G; Kooy, R Frank

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

SETD5 功能缺失变异会导致智力障碍和 3p25.3 微缺失综合征的核心表型。

Kuechler, Alma; Zink, Alexander M; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M; Novarino, Gaia; Engels, Hartmut

Clinical interpretation of CNVs with cross-species phenotype data

利用跨物种表型数据对CNV进行临床解读

Köhler, Sebastian; Schoeneberg, Uwe; Czeschik, Johanna Christina; Doelken, Sandra C; Hehir-Kwa, Jayne Y; Ibn-Salem, Jonas; Mungall, Christopher J; Smedley, Damian; Haendel, Melissa A; Robinson, Peter N

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

耳面综合征和食管闭锁、智力障碍和颧骨异常——扩展与 EFTUD2 突变相关的表型

Voigt, Claudia; Mégarbané, André; Neveling, Kornelia; Czeschik, Johanna Christina; Albrecht, Beate; Callewaert, Bert; von Deimling, Florian; Hehr, Andreas; Falkenberg Smeland, Marie; König, Rainer; Kuechler, Alma; Marcelis, Carlo; Puiu, Maria; Reardon, Willie; Riise Stensland, Hilde Monica Frostad; Schweiger, Bernd; Steehouwer, Marloes; Teller, Christopher; Martin, Marcel; Rahmann, Sven; Hehr, Ute; Brunner, Han G; Lüdecke, Hermann-Josef; Wieczorek, Dagmar

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

连锁智力残疾类型 Nascimento 是一种临床上独特的、可能未被充分诊断的疾病

Johanna Christina Czeschik, Peter Bauer, Karin Buiting, Claudia Dufke, Encarna Guillén-Navarro, Diana S Johnson, Udo Koehler, Vanesa López-González, Hermann-Josef Lüdecke, Alison Male, Deborah Morrogh, Angelika Rieß, Andreas Tzschach, Dagmar Wieczorek, Alma Kuechler