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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

The Need for Culturally Responsive Nutritional Counselling for Pregnant Aboriginal and Torres Strait Islander Women in Australia

澳大利亚原住民和托雷斯海峡岛民孕妇需要文化适应性营养咨询

Jalloub, Lina; Gilbert, Stephanie; Collins, Clare; Adam, Marc T P; Thorogood, Mieka; Smith, Tahlia; Gliddon, Janinne; St Clair, Serena; Turner, Nicole; Marriott, Rhonda; Walker, Roz; Rae, Kym M; On Behalf Of Deadly Diets Indigenous Steering Committee

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

导致X连锁智力障碍的USP27X变异体通过不同的机制破坏蛋白质功能。

Intisar Koch,Maya Slovik,Yuling Zhang,Bingyu Liu,Martin Rennie,Emily Konz,Benjamin Cogne,Muhannad Daana,Laura Davids,Illja J Diets,Nina B Gold,Alexander M Holtz,Bertrand Isidor,Hagar Mor-Shaked,Juanita Neira Fresneda,Karen Y Niederhoffer,Mathilde Nizon,Rolph Pfundt,Meh Simon,Apa Stegmann,Maria J Guillen Sacoto,Marijke Wevers,Tahsin Stefan Barakat,Shira Yanovsky-Dagan,Boyko S Atanassov,Rachel Toth,Chengjiang Gao,Francisco Bustos,Tamar Harel

Accuracy of Prehospital Triage of Adult Patients With Traumatic Injuries Following Implementation of a Trauma Triage Intervention

创伤分诊干预实施后,院前成人创伤患者分诊的准确性

Lokerman, Robin D; van Rein, Eveline A J; Waalwijk, Job F; van der Sluijs, Rogier; Houwert, Roderick M; Lansink, Koen W W; Edwards, Michael J R; van Vliet, Risco; Verhagen, Thijs F; Diets-Veenendaal, Nicolette; Leenen, Luke P H; van Heijl, Mark

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

构建儿童癌症易感综合征基因检测组合的选择标准

Byrjalsen, Anna; Diets, Illja J; Bakhuizen, Jette; Hansen, Thomas van Overeem; Schmiegelow, Kjeld; Gerdes, Anne-Marie; Stoltze, Ulrik; Kuiper, Roland P; Merks, Johannes H M; Wadt, Karin; Jongmans, Marjolijn

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

核糖体蛋白基因 RPL9 变体可对核糖体功能和细胞代谢产生不同的损害

Marco Lezzerini, Marianna Penzo, Marie-Françoise O'Donohue, Carolina Marques Dos Santos Vieira, Manon Saby, Hyung L Elfrink, Illja J Diets, Anne-Marie Hesse, Yohann Couté, Marc Gastou, Alexandra Nin-Velez, Peter G J Nikkels, Alexandra N Olson, Evelien Zonneveld-Huijssoon, Marjolijn C J Jongmans, Gua

Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia

体细胞回复突变事件表明,RPL4 是一种与 Diamond-Blackfan 贫血症类似的疾病中的新型致病基因。

Jongmans, Marjolijn C J; Diets, Illja J; Quarello, Paola; Garelli, Emanuela; Kuiper, Roland P; Pfundt, Rolph

Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition

儿童神经内分泌肿瘤:一项描述性研究揭示了遗传易感性的线索

Diets, I J; Nagtegaal, I D; Loeffen, J; de Blaauw, I; Waanders, E; Hoogerbrugge, N; Jongmans, M C J