Søgeresultater - Htun, Stephanie

  • Showing 1 - 5 results of 5
Refine Results
  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 af Krall, Max, Htun, Stephanie, Slavotinek, Anne

    Udgivet 2019
    Få fuldtekst Få fuldtekst Få fuldtekst
    Text
    Føj til favoritter
    Saved in:
  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 af 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.

    Udgivet 2020
    Få fuldtekst Få fuldtekst Få fuldtekst
    Text
    Føj til favoritter
    Saved in:
  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 af 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.

    Udgivet 2019
    Få fuldtekst Få fuldtekst Få fuldtekst
    Text
    Føj til favoritter
    Saved in:
  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 af 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

    Udgivet 2022
    Få fuldtekst Få fuldtekst Få fuldtekst
    Text
    Føj til favoritter
    Saved in:
  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 af 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

    Udgivet 2020
    Få fuldtekst Få fuldtekst Få fuldtekst
    Text
    Føj til favoritter
    Saved in:

Søgeredskaber: