Hasil Pencarian - Bobby G. Ng

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  1. 1
    N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity

    N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity oleh Mitali A. Tambe, Bobby G. Ng, Hudson H. Freeze

    Diterbitkan 2019-12-01
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  2. 2
    Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature

    Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature oleh Ali Al-Otaibi, Alaa AlAyed, Asma Al Madhi, Leena Saeed, Bobby G. Ng, Hudson H. Freeze, Mohammed Almannai

    Diterbitkan 2022-03-01
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  3. 3
    MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

    MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature oleh Tawhida Y. Abdel Ghaffar, Bobby G. Ng, Solaf M. Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H. Freeze

    Diterbitkan 2020-11-01
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  4. 4
    COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells

    COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells oleh Zhi-Jie Xia, Sonal Mahajan, Earnest James Paul Daniel, Bobby G. Ng, Mayank Saraswat, Alexandre Rosa Campos, Rabi Murad, Miao He, Hudson H. Freeze

    Diterbitkan 2022-10-01
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  5. 5
    Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

    Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation oleh Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D’Acunto, Hudson H. Freeze, Erik A. Eklund

    Diterbitkan 2018-01-01
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  6. 6
    Dissecting the molecular organization of the translocon-associated protein complex

    Dissecting the molecular organization of the translocon-associated protein complex oleh Stefan Pfeffer, Johanna Dudek, Miroslava Schaffer, Bobby G. Ng, Sahradha Albert, Jürgen M. Plitzko, Wolfgang Baumeister, Richard Zimmermann, Hudson H. Freeze, Benjamin D. Engel, Friedrich Förster

    Diterbitkan 2017-02-01
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  7. 7
    The Swedish COG6‐CDG experience and a comprehensive literature review

    The Swedish COG6‐CDG experience and a comprehensive literature review oleh Zhi‐Jie Xia, Bobby G. Ng, Elizabeth Jennions, Maria Blomqvist, Anneli Sandqvist Wiklund, Carola Hedberg‐Oldfors, Carlos Rodriguez Gonzalez, Hudson H. Freeze, Sofia Ygberg, Erik A. Eklund

    Diterbitkan 2023-01-01
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  8. 8
    A Dominant Heterozygous Mutation in COG4 Causes Saul–Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling

    A Dominant Heterozygous Mutation in COG4 Causes Saul–Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling oleh Zhi-Jie Xia, Xin-Xin I. Zeng, Xin-Xin I. Zeng, Mitali Tambe, Mitali Tambe, Bobby G. Ng, P. Duc S. Dong, P. Duc S. Dong, Hudson H. Freeze

    Diterbitkan 2021-09-01
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