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Anzahl der Publikationen: 4
Zeitschriftenartikel
Li, Dong; Wang, Qin; Gong, Naihua N.; Kurolap, Alina; Feldman, Hagit Baris; Boy, Nikolas; Brugger, Melanie; Grand, Katheryn; McWalter, Kirsty; Sacoto, Maria J. Guillen; Wakeling, Emma; Hurst, Jane; March, Michael E.; Bhoj, Elizabeth J.; Nowaczyk, Malgorzata J. M.; Gonzaga-Jauregui, Claudia; Mathew, Mariam; Dava-Wala, Ashita; Siemon, Amy; Bartholomew, Dennis; Huang, Yue; Lee, Hane; Martinez-Agosto, Julian A.; Schwaibold, Eva M. C.; Brunet, Theresa; Choukair, Daniela; Pais, Lynn S.; White, Susan M.; Christodoulou, John; Brown, Dana; Lindstrom, Kristin; Grebe, Theresa; Tiosano, Dov; Kayser, Matthew S.; Tan, Tiong Yang; Deardorff, Matthew A.; Song, Yuanquan und Hakonarson, Hakon
(2021):
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
In: Science Advances, Bd. 7, Nr. 20, eabf2066
Dhingani, Neel; Guo, Conghui; Pan, Jie; Li, Qi; Warner, Neil; Jardine, Sasha; Leung, Gabriella; Kotlarz, Daniel; Gonzaga-Jauregui, Claudia; Klein, Christoph; Snapper, Scott B.; Navas-Lopez, Victor Manuel und Muise, Aleixo M.
(2020):
The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease.
In: Scientific Reports, Bd. 10, Nr. 1, 18648
[PDF, 6MB]
Crowley, Eileen; Warner, Neil; Pan, Jie; Khalouei, Sam; Elkadri, Abdul; Fiedler, Karoline; Foong, Justin; Turinsky, Andrei L.; Bronte-Tinkew, Dana; Zhang, Shiqi; Hu, Jamie; Tian, David; Li, Dalin; Horowitz, Julie; Siddiqui, Iram; Upton, Julia; Roifman, Chaim M.; Church, Peter C.; Wall, Donna A.; Ramani, Arun K.; Kotlarz, Daniel; Klein, Christoph; Uhlig, Holm; Snapper, Scott B.; Gonzaga-Jauregui, Claudia; Paterson, Andrew D.; McGovern, Dermot P. B.; Brudno, Michael; Walters, Thomas D.; Griffiths, Anne M. und Muise, Aleixo M.
(2020):
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
In: Gastroenterology, Bd. 158, Nr. 8: S. 2208-2220
Ghosh, Sujal; Bal, Sevgi Koestel; Edwards, Emily S. J.; Pillay, Bethany; Heredia, Raul Jimenez; Cipe, Funda Erol; Rao, Geetha; Salzer, Elisabeth; Zoghi, Samaneh; Abolhassani, Hassan; Momen, Tooba; Gostick, Emma; Price, David A.; Zhang, Yu; Oler, Andrew J.; Gonzaga-Jauregui, Claudia; Erman, Baran; Metin, Ayse; Ilhan, Inci; Haskologlu, Sule; Islamoglu, Candan; Baskin, Kubra; Ceylaner, Serdar; Yilmaz, Ebru; Unal, Ekrem; Karakukcu, Musa; Berghuis, Dagmar; Cole, Theresa; Gupta, Aditya K.; Hauck, Fabian; Kogler, Hubert; Hoepelman, Andy I. M.; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kager, Leo; Holzinger, Dirk; Paulussen, Michael; Krueger, Renate; Meisel, Roland; Oommen, Prasad T.; Morris, Emma; Neven, Benedicte; Worth, Austen; Montfrans, Joris van; Fraaij, Pieter L. A.; Choo, Sharon; Dogu, Figen; Davies, E. Graham; Burns, Siobhan; Duckers, Gregor; Becker, Ruy Perez; von Bernuth, Horst; Latour, Sylvain; Faraci, Maura; Gattorno, Marco; Su, Helen C.; Pan-Hammarstroem, Qiang; Hammarstroem, Lennart; Lenardo, Michael J.; Ma, Cindy S.; Niehues, Tim; Aghamohammadi, Asghar; Rezaei, Nima; Ikinciogullari, Aydan; Tangye, Stuart G.; Lankester, Arjan C. und Boztug, Kaan
(2020):
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
In: Blood, Bd. 136, Nr. 23: S. 2638-2655