Výsledky vyhledávání - HUMBATOVA, Aytaj
- Zobrazuji výsledky 1 - 3 z 3
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1
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2 Autor Schlaweck, Annika E., Tazi-Ahnini, Rachid, Ü. Basmanav, F. Buket, Mohungoo, Javed, Pasternack-Ziach, Sandra M., Mattheisen, Manuel, Oprisoreanu, Ana-Maria, Humbatova, Aytaj, Wolf, Sabrina, Messenger, Andrew, Betz, Regina C.
Vydáno 2019Text -
2
Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing Autor UDDIN, Syed Ashraf, CESARATO, Nicole, HUMBATOVA, Aytaj, SCHMIDT, Axel, REHMAN, Fazal UR, NAEEM, Muhammad, WOLF, Sabrina, TAREEN, Abdul Samad, PANEZAI, Muhammad Anwar, THIELE, Holger, WALI, Abdul, FÖLSTER-HOLST, Regina, BASIT, Sulman, AYUB, Muhammad, BETZ, Regina C.
Vydáno 2020Text -
3
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome Autor Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortüm, 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, Altmüller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C., Lin, Zhimiao
Vydáno 2020Text