Hasil Pencarian - Kai Lee Yap

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  1. 1
    A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing

    A performance evaluation study: Variant annotation tools - the enigma of clinical next generation sequencing (NGS) based genetic testing oleh Sachleen Tuteja, Sabah Kadri, Kai Lee Yap

    Diterbitkan 2022-01-01
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  2. 2
    Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids

    Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids oleh Sun Young Kim, Alexander Ing, Shunyou Gong, Kai Lee Yap, Rukhmi Bhat

    Diterbitkan 2021-03-01
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  3. 3
    P706: Improved interpretation of PHOX2B missense variants for diagnosis of congenital central hypoventilation syndrome (CCHS) using in silico prediction algorithms

    P706: Improved interpretation of PHOX2B missense variants for diagnosis of congenital central hypoventilation syndrome (CCHS) using in silico prediction algorithms oleh Andy Drackley, Andrew Skol, Casey Rand, Debra Weese-Mayer, Kai Lee Yap

    Diterbitkan 2024-01-01
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  4. 4
    P489: Retrospective review of genetic testing and variant reclassification in patients with congenital cataracts

    P489: Retrospective review of genetic testing and variant reclassification in patients with congenital cataracts oleh Alexander Ing, Andy Drackley, Kevin Zhang, Kai Lee Yap, Hanta Ralay-Ranaivo, Jennifer Rossen

    Diterbitkan 2023-01-01
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  5. 5
    P454: Investigating the efficacy of targeted NGS panels with rapid TAT for pediatric patients with narrow differential diagnoses

    P454: Investigating the efficacy of targeted NGS panels with rapid TAT for pediatric patients with narrow differential diagnoses oleh Andy Drackley, Pamela Rathbun, Alexander Ing, Alissa Wlodaver, Joshua Baker, Rachel Hickey, Merlene Peter, Anne McRae, Sarah Jurgensmeyer, Kai Lee Yap, Carlos Prada

    Diterbitkan 2023-01-01
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  6. 6
    Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy

    Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy oleh Rabia S. Khan, Elfriede Pahl, Lisa Dellefave‐Castillo, Karen Rychlik, Alexander Ing, Kai Lee Yap, Casey Brew, Jamie R. Johnston, Elizabeth M. McNally, Gregory Webster

    Diterbitkan 2022-01-01
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  7. 7
    P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory

    P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory oleh Kai Lee Yap, Anthony Wong, Sachleen Tuteja, Andrew Skol, Andy Drackley, Alexander Ing, Eleanor Hilton, Michael Carroll, Christopher McCabe, Sabah Kadri, Pamela Rathbun, Katrin Leuer, Joel Charrow

    Diterbitkan 2023-01-01
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  8. 8
    Oncoproteomic analysis reveals co-upregulation of RELA and STAT5 in carboplatin resistant ovarian carcinoma.

    Oncoproteomic analysis reveals co-upregulation of RELA and STAT5 in carboplatin resistant ovarian carcinoma. oleh Natini Jinawath, Chanont Vasoontara, Artit Jinawath, Xueping Fang, Kejia Zhao, Kai-Lee Yap, Tong Guo, Cheng S Lee, Weijie Wang, Brian M Balgley, Ben Davidson, Tian-Li Wang, Ie-Ming Shih

    Diterbitkan 2010-06-01
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  9. 9
    Loss of NAC1 expression is associated with defective bony patterning in the murine vertebral axis.

    Loss of NAC1 expression is associated with defective bony patterning in the murine vertebral axis. oleh Kai Lee Yap, Polina Sysa-Shah, Brad Bolon, Ren-Chin Wu, Min Gao, Alice L Herlinger, Fengying Wang, Francesco Faiola, David Huso, Kathleen Gabrielson, Tian-Li Wang, Jianlong Wang, Ie-Ming Shih

    Diterbitkan 2013-01-01
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