Rezultati - Htun, Stephanie

Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4(st72) allele in zebrafish od Krall, Max, Htun, Stephanie, Slavotinek, Anne

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Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population od Islam, Farrah, Htun, Stephanie, Lai, Li-Wen, Krall, Max, Poranki, Menitha, Martin, Pierre-Marie, Sobreira, Nara, Wohler, Elizabeth S., Yu, Jingwei, Moore, Anthony T., Slavotinek, Anne M.

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Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies od Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.

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S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome od Chen, Fuying, Ni, Cheng, Wang, Xiaoxiao, Cheng, Ruhong, Pan, Chaolan, Wang, Yumeng, Liang, Jianying, Zhang, Jia, Cheng, Jinke, Chin, Y Eugene, Zhou, Yi, Wang, Zhen, Guo, Yiran, Chen, She, Htun, Stephanie, Mathes, Erin F, de Alba Campomanes, Alejandra G, Slavotinek, Anne M, Zhang, Si, Li, Ming, Yao, Zhirong

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Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness od Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, Corbett, Anita H

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