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

Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.

VPS18 基因突变会导致中性粒细胞成熟缺陷,并伴有囊泡稳态紊乱。

Gao Jincheng, Bader Almke, Linder Monika I, Cheng Jingyuan, Richter Mathis, da Costa Raul, Zehrer Annette, Mitt Karl, Popper Bastian, Meissner Felix, Wei Xiang, de Vega Gómez Enrique, Tatematsu Megumi, Rohlfs Meino, Frenz-Wiessner Stephanie, Kiziltug Mehmet, Somekh Ido, Yacobovich Joanne, Steinberg-Shemer Orna, Somech Raz, Soehnlein Oliver, Schmid Bettina, Klein Christoph, Walzog Barbara, Maier-Begandt Daniela

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants

安纳托利亚中部一家三级参考中心在携带 ZAP-70 变异体(包括两种新变异体)的儿童中的经验

Göktaş, Serdar; Kalaycik Sengul, Ozlem; Erdem, Şerife; Eke Güngör, Hatice; Babayeva, Royala; Bilgic-Eltan, Sevgi; Güzel, Turan; Dörterler, Koray; Rohlfs, Meino; Özcan, Alper; Yilmaz, Ebru; Karakukcu, Musa; Akar, Haluk Himmet; Karakoc-Aydiner, Elif; Özen, Ahmet; Elmas, Muhsin; Patiroğlu, Türkan; Doğan, Muhammet E; Baş, Hasan; Taylor, Naomi; Baris, Safa; Klein, Christoph; Eken, Ahmet; Ünal, Ekrem

Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia.

显性负性 PSMB10 会破坏免疫蛋白酶体的组装,导致短暂性 T 淋巴细胞减少症。

Ghosh Sujal, Wang Yuqin, Schultheiss Christoph, Borkhardt Arndt, Dafun Angelique Sanchez, Knipp Liisa, Marwitz Sebastian, Ehl Stephan, Soulard Clara, Haddad Elie, Dey Debayan, Evans Grace, Golwala Zainab M, Bennstein Sabrina B, Laws Hans-Jürgen, Rohlfs Meino, Magg Thomas, Binder Mascha, Kreins Alexandra Y, Bousquet Marie-Pierre, Marcoux Julien, Klein Christoph, Conn Graeme L, Meiners Silke, Hauck Fabian

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders

诊断患有各种遗传性血小板疾病的患者的临床和实验室特征

Gök, Veysel; Ozcan, Alper; Mutlu, Fatma Türkan; Yılmaz, Ebru; Kocak Göl, Deniz; Ozay, Mustafa; Demir, Baver; Taskiran, Hüseyin; Bas, Hasan; Mutlu, Mehmet Burak; Dogan, Muhammet Ensar; Bisgin, Atil; Somekh, Ido; Rohlfs, Meino; Dundar, Munis; Ozkul, Yusuf; Klein, Christoph; Karakukcu, Musa; Unal, Ekrem

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

将新一代表型分析技术整合到国家级框架中,用于治疗罕见病患者,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

SRP19 和 SRPRA 基因的人类遗传缺陷会导致严重的先天性中性粒细胞减少症,并伴有独特的蛋白质组变化。

Linder, Monika I; Mizoguchi, Yoko; Hesse, Sebastian; Csaba, Gergely; Tatematsu, Megumi; Łyszkiewicz, Marcin; Ziȩtara, Natalia; Jeske, Tim; Hastreiter, Maximilian; Rohlfs, Meino; Liu, Yanshan; Grabowski, Piotr; Ahomaa, Kaarin; Maier-Begandt, Daniela; Schwestka, Marko; Pazhakh, Vahid; Isiaku, Abdulsalam I; Briones Miranda, Brenda; Blombery, Piers; Saito, Megumu K; Rusha, Ejona; Alizadeh, Zahra; Pourpak, Zahra; Kobayashi, Masao; Rezaei, Nima; Unal, Ekrem; Hauck, Fabian; Drukker, Micha; Walzog, Barbara; Rappsilber, Juri; Zimmer, Ralf; Lieschke, Graham J; Klein, Christoph

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

人类 CARMIL2 缺陷所导致的免疫学和临床表型比 CD28 缺陷更为广泛。

Lévy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Raedler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jérémie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Bronken Martinsen, Karen Helene; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S; Kühl, Jörn-Sven; Ip, Winnie; McDermott, Elizabeth M; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurélie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S; Knutsen, Alan P; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B; Baumann, Ulrich; Neven, Bénédicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Béziat, Vivien

First detected geographical cluster of BoDV-1 encephalitis from same small village in two children: therapeutic considerations and epidemiological implications

首次发现来自同一个村庄的两个儿童出现 BoDV-1 脑炎地理聚集性病例:治疗考虑和流行病学意义

Leonie Grosse #, Victoria Lieftüchter #, Yannik Vollmuth, Florian Hoffmann, Martin Olivieri, Karl Reiter, Moritz Tacke, Florian Heinen, Ingo Borggraefe, Andreas Osterman, Maria Forstner, Johannes Hübner, Ulrich von Both, Lena Birzele, Meino Rohlfs, Adrian Schomburg, Merle M Böhmer, Viktoria Ruf, Dán

DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature

DNAH11基因及一种与内脏反位相关的新型遗传变异:病例报告及文献综述

Sodeifian, Fatemeh; Samieefar, Noosha; Shahkarami, Sepideh; Rayzan, Elham; Seyedpour, Simin; Rohlfs, Meino; Klein, Christoph; Babaie, Delara; Rezaei, Nima