Hasil Pencarian - Rizwan Yousaf

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  1. 1
    P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease*

    P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease* oleh Xiangwen Chen-Deutsch, Rizwan Yousaf, Yinghong Pan, Christin Collins, Madhuri Hegde

    Diterbitkan 2024-01-01
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  2. 2
    FREQUENCY OF VITAMIN D DEFICIENCY IN PATIENTS PRESENTING WITH FIBROMYALGIA

    FREQUENCY OF VITAMIN D DEFICIENCY IN PATIENTS PRESENTING WITH FIBROMYALGIA oleh Samina Rashid, Khuram Haq Nawaz, Amer Fakhr, Hammad Ather, Farzana Hakeem, Rizwan Yousaf

    Diterbitkan 2021-10-01
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  3. 3
    MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells

    MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells oleh Rizwan Yousaf, Qinghang Meng, Robert B. Hufnagel, Ying Xia, Chandrakala Puligilla, Zubair M. Ahmed, Saima Riazuddin

    Diterbitkan 2015-12-01
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  4. 4
    Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

    Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. oleh Rizwan Yousaf, Chunfang Gu, Zubair M Ahmed, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin, Stephen B Shears, Saima Riazuddin

    Diterbitkan 2018-03-01
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  5. 5
    P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset

    P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset oleh Jorune Balciuniene, Ruby Liu, Christin Collins, Lora Bean, Fen Guo, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen-Deutsch, Rizwan Yousaf, Kristina Fura, Ephrem Chin, Cristina da Silva, Abhinav Mathur, Zeqiang Ma, Madhuri Hegde

    Diterbitkan 2023-01-01
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  6. 6
    P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing

    P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing oleh Lora Bean, Christin Collins, Fen Guo, Jorune Balciuniene, Xiangwen Chen-Deutsch, Babi Ramesh Reddy Nallamilli, Naga Guruju, Rizwan Yousaf, Kristina Fura, Amber Woodman, Ruby Liu, Jenny Zhang, Kate Liebmann, Julia Gerow, Ephrem Chin, Madhuri Hegde

    Diterbitkan 2023-01-01
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  7. 7
    P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test*

    P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test* oleh Fen Guo, Ruby Liu, Yinghong Pan, Christin D. Collins, Lora Bean, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen-Deutsch, Rizwan Yousaf, Ephrem Chin, Cristina da Silva, Abhinav Mathur, Zeqiang Ma, Jorune Balciuniene, Madhuri Hegde

    Diterbitkan 2023-01-01
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  8. 8
    P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging

    P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging oleh Jorune Balciuniene, Ruby Liu, Lora Bean, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen-Deutsch, Rizwan Yousaf, Kristina Fura, Eprem Chin, Abhinav Mathur, Zeqiang Ma, Jonathan Carmichael, Christin Collins, Cristina da Silva, Brian Kirmse, Steven Bleyl, Madhuri Hegde

    Diterbitkan 2024-01-01
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  9. 9
    Cellular reprogramming with ATOH1, GFI1, and POU4F3 implicate epigenetic changes and cell-cell signaling as obstacles to hair cell regeneration in mature mammals

    Cellular reprogramming with ATOH1, GFI1, and POU4F3 implicate epigenetic changes and cell-cell signaling as obstacles to hair cell regeneration in mature mammals oleh Amrita A Iyer, Ishwar Hosamani, John D Nguyen, Tiantian Cai, Sunita Singh, Melissa M McGovern, Lisa Beyer, Hongyuan Zhang, Hsin-I Jen, Rizwan Yousaf, Onur Birol, Jenny J Sun, Russell S Ray, Yehoash Raphael, Neil Segil, Andrew K Groves

    Diterbitkan 2022-11-01
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