 | Up a level |
2020
Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortuem, Fanny, Kumar, Sheetal, Romano, Maria Teresa, Dai, Shangzhi, Mo, Ran, Sivalingam, Sugirthan, Motameny, Susanne, Wu, Yuan, Wang, Xiaopeng, Niu, Xinwu, Geng, Songmei, Bornholdt, Dorothea, Kroisel, Peter M., Tadini, Gianluca, Walter, Scott D., Hauck, Fabian, Girisha, Katta M., Calza, Anne-Marie, Bottani, Armand, Altmueller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C. and Lin, Zhimiao (2020). Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am. J. Hum. Genet., 107 (1). S. 34 - 46. CAMBRIDGE: CELL PRESS. ISSN 1537-6605
2019
Bauer, Christiane K., Schneeberger, Pauline E., Kortuem, Fanny, Altmueller, Janine, Santos-Simarro, Fernando 
ORCID: 0000-0002-1201-9118, Baker, Laura, Keller-Ramey, Jennifer, White, Susan M., Campeau, Philippe M., Gripp, Karen W. and Kutsche, Kerstin
(2019).
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Am. J. Hum. Genet., 104 (6).
S. 1139 - 1158.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605