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

Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander Disease

新生儿期发病的亚历山大病快速进展、早期死亡和影像学表现之间的关联

Schwarz, Simone; Steggerda, Sylke J; de Vries, Linda S; Schulz, Katharina; Dürr, Nikola R; Lequin, Maarten H; Rosenbaum, Thorsten; Felderhoff-Müser, Ursula; Jauss, Robin-Tobias; Brevis Nuñes, Francisco; Bruns, Nora

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

MBOAT7脑病:神经病学和癫痫病学特征

De la Rosa, Sebastian Ortiz; Rizzo, Valentina; Jauss, Robin-Tobias; Bartolomaeus, Tobias; Escolar, Maria; Bernard, Geneviève; Gavrilova, Ralitza; Ahrens-Nicklas, Rebecca; Lemire, Gabrielle; Boycott, Kym M; Mercimek-Andrews, Saadet; Prontera, Paolo; Costa, Cinzia; Rakic, Bojana; Boerkoel, Cornelius F; Huynh, Stephanie; Huh, Linda; Sherr, Elliott; Argilli, Emanuela; Ortigoza-Escobar, Juan Darío; Casas-Alba, Didac; Nunes, Tania; Koolen, David A; Platzer, Konrad; Khinchi, Marianne S; Gardella, Elena; Fenger, Christina D; Møller, Rikke S; Bayat, Allan

Assessment of 1863 GRIN2A Variants Contradicts a Role in Tumorigenesis

对 1863 个 GRIN2A 变异体的评估与肿瘤发生中的作用相矛盾

Jauss, Robin-Tobias; Lemke, Johannes R; Strehlow, Vincent

[Not Available]

[无法使用]

Tavoletti, Gianluca; Avallone, Gianluca; Vezzoli, Pamela; Sena, Paolo; Marzano, Angelo V; Berti, Emilio; Alberti-Violetti, Silvia; Schneider, Marina; Dummer, Reinhard; Hempel, Conrad; Grunewald, Sonja; Mittank‐Weidner, Till; Simon, Jan‐Christoph; Schnabel, Franziska; Jauss, Robin‐Tobias; Schnabel, Viktor

Novel variant of the NCSTN gene identified in a woman with hidradenitis suppurativa

在一名患有化脓性汗腺炎的女性中发现了一种新的NCSTN基因变异

Hempel, Conrad; Grunewald, Sonja; Mittank-Weidner, Till; Simon, Jan-Christoph; Schnabel, Franziska; Jauss, Robin-Tobias; Schnabel, Viktor

A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome

患有腭裂并伴有PTEN错构瘤肿瘤综合征的新生儿

Nestler, Ulf; Gräfe, Daniel; Strehlow, Vincent; Jauss, Robin-Tobias; Merkenschlager, Andreas; Schönfeld, Annika; Wilhelmy, Florian

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm

硫胺素反应性巨幼细胞性贫血综合征,类似骨髓增生异常综合征

Klötzer, Christina; Schnabel, Franziska; Kubasch, Anne-Sophie; Jentzsch, Madlen; Franke, Georg-Nikolaus; Uhlig, Jens; Faust, Helene; Jauss, Robin-Tobias; Oppermann, Henry; Popp, Denny; Metzeler, Klaus H; Lemke, Johannes R; Vučinić, Vladan; Platzbecker, Uwe

The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources

MorbidGenes基因库:每月更新的、与诊断相关的罕见病基因列表,数据来源于多种渠道。

Jauss, Robin-Tobias; Popp, Bernt; Bachmann, Joachim; Abou Jamra, Rami; Platzer, Konrad

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders

常规诊断证实存在新的神经发育障碍

Jauss, Robin-Tobias; Schließke, Sophia; Abou Jamra, Rami

Genetic Mapping of a new Hippo allele, Hpo(N.1.2), in Drosophila melanogaster

果蝇中一个新的 Hippo 等位基因 Hpo(N.1.2) 的遗传定位

Siders, Jamie L; Bieser, Kayla L; Hamill, Danielle R; Acosta, Erika C; Alexander, Olivia K; Ali, Humza I; Anderson, Micah J; Arrasmith, Hayden R; Azam, Mustafa; Beeman, Nikki J; Beydoun, Hassan; Bishop, Lauren J; Blair, Morgan D; Bletch, Brianna; Bline, Heather R; Brown, Jennifer C; Burns, Kelly M; Calagua, Karina C; Chafin, Lexie; Christy, William Ah; Ciamacco, Carlyn; Cizauskas, Hannah; Colwell, Caitlyn M; Courtright, Abigail R; Diaz Alavez, Lucero; Ecret, Rayne Is; Edriss, Fatima; Ellerbrock, Taylor G; Ellis, Madison M; Extine, Erica M; Feldman, Eric; Fickenworth, Luke J; Goeller, Caroline M; Grogg, Alexis S; Hernandez, Yailine; Hershner, Abigail; Jauss, Megan M; Jimenez Garcia, Leyre; Franks, Katey E; Kazubski, Ethan T; Landis, Emily R; Langub, Jon; Lassek, Tia N; Le, Triet C; Lee, Julia M; Levine, Daniel P; Lightfoot, Phoebe J; Love, Natasha; Maalhagh-Fard, Ali; Maguire, Colin; McGinnis, Brynna E; Mehta, Bhargavi V; Melendrez, Veronica; Mena, Zimri E; Mendell, Seth; Montiel-Garcia, Petra; Murry, Autumn S; Newland, Riley A; Nobles, Ryan M; Patel, Neha; Patil, Yashodhara; Pfister, Cassidy L; Ramage, Victoria; Ray, Mya R; Rodrigues, Joseph; Rodriquez, Victoria C; Romero, Yara; Scott, Alexandra M; Shaba, Nicholas; Sieg, Samantha; Silva, Kayla; Singh, Sahiba; Spargo, Aleksandria J; Spitnale, Savanna J; Sweeden, Nicole; Tague, Logan; Tavernini, Breanna M; Tran, Kathleen; Tungol, Liselle; Vestal, Kylie A; Wetherbee, Amber; Wright, Kayla M; Yeager, Anthony T; Zahid, Rehab; Kagey, Jacob D