Hasil Pencarian - Patrick R Blackburn

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  1. 1
    Holocarboxylase synthetase deficiency pre and post newborn screening

    Holocarboxylase synthetase deficiency pre and post newborn screening oleh Taraka R. Donti, Patrick R. Blackburn, Paldeep S. Atwal

    Diterbitkan 2016-06-01
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  2. 2
    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain oleh Mathew A. Coban, Patrick R. Blackburn, Murray L. Whitelaw, Mieke M. van Haelst, Paldeep S. Atwal, Thomas R. Caulfield

    Diterbitkan 2020-09-01
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  3. 3
    Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.

    Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation... oleh Michael T Zimmermann, Raul Urrutia, Gavin R Oliver, Patrick R Blackburn, Margot A Cousin, Nicole J Bozeck, Eric W Klee

    Diterbitkan 2017-01-01
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  4. 4
    Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

    Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema oleh Antoneicka L. Harris, Patrick R. Blackburn, John E. Richter, Jennifer M. Gass, Thomas R. Caulfield, Ahmed N. Mohammad, Paldeep S. Atwal

    Diterbitkan 2018-01-01
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  5. 5
    Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

    Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome oleh Michael T. Zimmermann, Raul A. Urrutia, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Colleen Macmurdo, Paldeep S. Atwal

    Diterbitkan 2017-01-01
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  6. 6
    Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation

    Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation oleh Alex F Thompson, Patrick R Blackburn, Noah S Arons, Sarah N Stevens, Dusica Babovic-Vuksanovic, Jane B Lian, Eric W Klee, Jason Stumpff

    Diterbitkan 2022-06-01
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  7. 7
    The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

    The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients oleh Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee

    Diterbitkan 2017-12-01
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  8. 8
    An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid

    An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid oleh Patrick R. Blackburn, Jodi M. Carter, Devin Oglesbee, Jennifer J. Westendorf, Brian A. Neff, Damian Stichel, David W. Tsen, Ralitza H. Gavrilova, Pieter Wesseling, Andreas von Deimling, Thomas R. Caulfield, Eric W. Klee, Stefan Pusch, Carrie Y. Inwards

    Diterbitkan 2020-10-01
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  9. 9
    Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

    Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2 oleh Patrick R. Blackburn, Matthew J. Schultz, Carrie A. Lahner, Dong Li, Elizabeth Bhoj, Laura J. Fisher, Deborah L. Renaud, Amy Kenney, Niema Ibrahim, Mais Hashem, Mohammed Zain Seidahmed, Linda Hasadsri, Samantha A. Schrier Vergano, Fowzan S. Alkuraya, Brendan C. Lanpher

    Diterbitkan 2020-06-01
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  10. 10
    Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy

    Novel BRAF alteration in desmoplastic infantile ganglioglioma with response to targeted therapy oleh Melissa M. Blessing, Patrick R. Blackburn, Jessica R. Balcom, Chandra Krishnan, Virginia L. Harrod, Michael T. Zimmermann, Emily G. Barr Fritcher, Christopher D. Zysk, Rory A. Jackson, Asha A. Nair, Robert B. Jenkins, Kevin C. Halling, Benjamin R. Kipp, Cristiane M. Ida

    Diterbitkan 2018-11-01
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  11. 11
    tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish

    tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish oleh Myron S Ignatius, Madeline N Hayes, Finola E Moore, Qin Tang, Sara P Garcia, Patrick R Blackburn, Kunal Baxi, Long Wang, Alexander Jin, Ashwin Ramakrishnan, Sophia Reeder, Yidong Chen, Gunnlaugur Petur Nielsen, Eleanor Y Chen, Robert P Hasserjian, Franck Tirode, Stephen C Ekker, David M Langenau

    Diterbitkan 2018-09-01
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  12. 12
    Activation of P-TEFb by Androgen Receptor-Regulated Enhancer RNAs in Castration-Resistant Prostate Cancer

    Activation of P-TEFb by Androgen Receptor-Regulated Enhancer RNAs in Castration-Resistant Prostate Cancer oleh Yu Zhao, Liguo Wang, Shancheng Ren, Lan Wang, Patrick R. Blackburn, Melissa S. McNulty, Xu Gao, Meng Qiao, Robert L. Vessella, Manish Kohli, Jun Zhang, R. Jeffrey Karnes, Donald J. Tindall, Youngsoo Kim, Robert MacLeod, Stephen C. Ekker, Tiebang Kang, Yinghao Sun, Haojie Huang

    Diterbitkan 2016-04-01
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  13. 13
    SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA

    SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA oleh Jagadheshwar Balan, Garrett Jenkinson, Asha Nair, Neiladri Saha, Tejaswi Koganti, Jesse Voss, Christopher Zysk, Emily G. Barr Fritcher, Christian A. Ross, Caterina Giannini, Aditya Raghunathan, Benjamin R. Kipp, Robert Jenkins, Cris Ida, Kevin C. Halling, Patrick R. Blackburn, Surendra Dasari, Gavin R. Oliver, Eric W. Klee

    Diterbitkan 2021-10-01
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