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

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

SHROOM4 的 X 连锁变异与泌尿道、肛门直肠、心血管和中枢神经系统的先天性异常有关

Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tobias T Lindenberg, Holger Thiele, Friedhelm Hildebrandt, Katrin Hinderhofer, Ute Moog, Alina C Hilger, Bonnie Sullivan, Lauren Bartik,

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

轻微的PUM1基因突变与成人发病型共济失调有关,而单倍体不足则会导致发育迟缓和癫痫发作。

Vincenzo A Gennarino ,Elizabeth E Palmer ,Laura M McDonell ,Li Wang ,Carolyn J Adamski ,Amanda Koire ,Lauren See ,Chun-An Chen ,Christian P Schaaf ,Jill A Rosenfeld ,Jessica A Panzer ,Ute Moog ,Shuang Hao ,Ann Bye ,Edwin P Kirk ,Pawel Stankiewicz ,Amy M Breman ,Arran McBride ,Tejaswi Kandula ,Holly A Dubbs ,Rebecca Macintosh ,Michael Cardamone ,Ying Zhu ,Kevin Ying ,Kerith-Rae Dias ,Megan T Cho ,Lindsay B Henderson ,Berivan Baskin ,Paula Morris ,Jiang Tao ,Mark J Cowley ,Marcel E Dinger ,Tony Roscioli ,Oana Caluseriu ,Oksana Suchowersky ,Rani K Sachdev ,Olivier Lichtarge ,Jianrong Tang ,Kym M Boycott ,J Lloyd Holder Jr ,Huda Y Zoghbi

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

AKT3基因突变与多种发育障碍相关,包括极度巨脑畸形。

Diana Alcantara ,Andrew E Timms ,Karen Gripp ,Laura Baker ,Kaylee Park ,Sarah Collins ,Chi Cheng ,Fiona Stewart ,Sarju G Mehta ,Anand Saggar ,László Sztriha ,Melinda Zombor ,Oana Caluseriu ,Ronit Mesterman ,Margot I Van Allen ,Adeline Jacquinet ,Sofia Ygberg ,Jonathan A Bernstein ,Aaron M Wenger ,Harendra Guturu ,Gill Bejerano ,Natalia Gomez-Ospina ,Anna Lehman ,Enrico Alfei ,Chiara Pantaleoni ,Valerio Conti ,Renzo Guerrini ,Ute Moog ,John M Graham Jr ,Robert Hevner ,William B Dobyns ,Mark O'Driscoll ,Ghayda M Mirzaa

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

毛发硫营养不良症致病 TFIIEβ 突变影响高度分化组织中的转录

Arjan F Theil, Imke K Mandemaker, Emile van den Akker, Sigrid M A Swagemakers, Anja Raams, Tatjana Wüst, Jurgen A Marteijn, Jacques C Giltay, Richard M Colombijn, Ute Moog, Urania Kotzaeridou, Mehrnaz Ghazvini, Marieke von Lindern, Jan H J Hoeijmakers, Nicolaas G J Jaspers, Peter J van der Spek, Wim

Phenotypic and molecular insights into CASK-related disorders in males

男性CASK相关疾病的表型和分子机制研究

Ute Moog ,Tatjana Bierhals ,Kristina Brand ,Jan Bautsch ,Saskia Biskup ,Thomas Brune ,Jonas Denecke ,Christine E de Die-Smulders ,Christina Evers ,Maja Hempel ,Marco Henneke ,Helger Yntema ,Björn Menten ,Joachim Pietz ,Rolph Pfundt ,Jörg Schmidtke ,Doris Steinemann ,Constance T Stumpel ,Lionel Van Maldergem ,Kerstin Kutsche