Ngā hua rapu - Htun, Stephanie

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  1. 1
    Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4(st72) allele in zebrafish

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

    I whakaputaina 2019
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  2. 2
    Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population

    Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population mā 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.

    I whakaputaina 2020
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  3. 3
    Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

    Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies mā 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.

    I whakaputaina 2019
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  4. 4
    S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome

    S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome mā 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

    I whakaputaina 2022
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  5. 5
    Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

    Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness mā 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

    I whakaputaina 2020
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