Hasil Pencarian - Christin Collins

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  1. 1
    P443: Genetic screening of a reportedly healthy population for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome

    P443: Genetic screening of a reportedly healthy population for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome oleh Christin Collins, Suresh Shenoy, Abhinav Mathur, Madhuri Hegde

    Diterbitkan 2023-01-01
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  2. 2
    P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic

    P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic oleh Mary Colasanto, Yinghong Pan, Ruby Liu, Christin Collins, Madhuri Hegde

    Diterbitkan 2024-01-01
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  3. 3
    P441: Genomic and biochemical profile of pseudodeficiency in lysosomal storage disorders

    P441: Genomic and biochemical profile of pseudodeficiency in lysosomal storage disorders oleh Xiangwen Chen-Deutsch, Taraka Donti, Zhili Lin, Christin Collins, Madhuri Hegde

    Diterbitkan 2023-01-01
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  4. 4
    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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  5. 5
    P729: Identification of multiple diagnoses in pediatric patients through genome sequencing

    P729: Identification of multiple diagnoses in pediatric patients through genome sequencing oleh Christin Collins, Fen Guo, Ruby Liu, Yinghong Pan, Mary Colasanto, Madhuri Hegde

    Diterbitkan 2024-01-01
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  6. 6
    P157: Efficiency of genome sequencing in establishing molecular diagnosis in undiagnosed patients

    P157: Efficiency of genome sequencing in establishing molecular diagnosis in undiagnosed patients oleh Arul Duraisamy, Lakshmanan Jagannathan, Shruti Sureshkumar, Rajiv Rose, Christin Collins, Madhuri Hegde

    Diterbitkan 2023-01-01
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  7. 7
    P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

    P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing oleh Ruby Liu, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Madhuri Hegde

    Diterbitkan 2024-01-01
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  8. 8
    P567: Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population

    P567: Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population oleh Shruti Sureshkumar, Arul Joseph Duraisamy, Lakshmanan Jagannathan, Rajiv Rose, Christin Collins, Madhuri Hegde

    Diterbitkan 2023-01-01
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  9. 9
    P566: Importance Of parental segregation studies and its role in variant classification

    P566: Importance Of parental segregation studies and its role in variant classification oleh Shruti Sureshkumar, Arul Joseph Duraisamy, Lakshmanan Jagannathan, Rajiv Rose, Christin Collins, Madhuri Hegde

    Diterbitkan 2023-01-01
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  10. 10
    P502: How does multiomics help variant reclassification?

    P502: How does multiomics help variant reclassification? oleh Ruby Liu, Fen Guo, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Naga Guruju, Madhuri Hegde

    Diterbitkan 2023-01-01
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  11. 11
    P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene

    P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene oleh Naga Guruju, Vanessa Jump, Ruby Liu, Babi Ramesh Reddy Nallamilli, Jill Steigerwalt, Christin Collins, Lora Bean, Madhuri Hegde

    Diterbitkan 2024-01-01
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  12. 12
    P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders

    P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders oleh Babi Ramesh Reddy Nallamilli, Jagannathan Lakshmanan, Vinish Ramachander, Supan Dhillon, Ruby Liu, Yinghong Pan, Naga Guruju, Christin Collins, Lora Bean, Madhuri Hegde

    Diterbitkan 2024-01-01
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  13. 13
    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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  14. 14
    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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  15. 15
    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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  16. 16
    Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

    Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy oleh Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang

    Diterbitkan 2022-08-01
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