Hasil Pencarian - Bruce D. Gelb

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  1. 1
    The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency.

    The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency. oleh Bruce D Gelb

    Diterbitkan 2016-09-01
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  2. 2
    The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila

    The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila oleh Leonardo R. Ruzzi, Pablo E. Schilman, Alvaro San Martin, Sergio E. Lew, Bruce D. Gelb, Bruce D. Gelb, Bruce D. Gelb, Mario R. Pagani

    Diterbitkan 2020-05-01
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  3. 3
    Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes.

    Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes. oleh Cheryl C Tan, Martin J Walsh, Bruce D Gelb

    Diterbitkan 2009-12-01
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  4. 4
    Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease

    Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease oleh Anne M. Slavotinek, Michelle L. Thompson, Lisa J. Martin, Bruce D. Gelb

    Diterbitkan 2024-07-01
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  5. 5
    Small open reading frames: a comparative genetics approach to validation

    Small open reading frames: a comparative genetics approach to validation oleh Niyati Jain, Felix Richter, Ivan Adzhubei, Andrew J. Sharp, Bruce D. Gelb

    Diterbitkan 2023-05-01
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  6. 6
    De novo variants in exomes of congenital heart disease patients identify risk genes and pathways

    De novo variants in exomes of congenital heart disease patients identify risk genes and pathways oleh Cigdem Sevim Bayrak, Peng Zhang, Martin Tristani-Firouzi, Bruce D. Gelb, Yuval Itan

    Diterbitkan 2020-01-01
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  7. 7
    Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.

    Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy. oleh Timothy J Cashman, Rebecca Josowitz, Bryce V Johnson, Bruce D Gelb, Kevin D Costa

    Diterbitkan 2016-01-01
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  8. 8
    Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy

    Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy oleh Tirtha K. Das, Jared Gatto, Rupa Mirmira, Ethan Hourizadeh, Dalia Kaufman, Bruce D. Gelb, Ross Cagan

    Diterbitkan 2021-04-01
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  9. 9
    PPA2 Deficiency in 2 Sisters

    PPA2 Deficiency in 2 Sisters oleh Will Genthe, MS, Colleen Donnelly, MS, David Ezon, MD, Veronica Fettig, MS, Jaya Ganesh, MD, Isaac Marin-Valecia, MD, Bruce D. Gelb, MD

    Diterbitkan 2023-10-01
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  10. 10
    Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association

    Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association oleh Jennifer K. Peterson, Shanelle Clarke, Bruce D. Gelb, Nadine A. Kasparian, Vanna Kazazian, Karyn Pieciak, Nancy A. Pike, Shaun P. Setty, Melissa K. Uveges, Nancy A. Rudd

    Diterbitkan 2024-10-01
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  11. 11
    Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

    Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes oleh Rebecca Josowitz, Sonia Mulero-Navarro, Nelson A. Rodriguez, Christine Falce, Ninette Cohen, Erik M. Ullian, Lauren A. Weiss, Katherine A. Rauen, Eric A. Sobie, Bruce D. Gelb

    Diterbitkan 2016-09-01
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  12. 12
    Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression.

    Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression. oleh Rebecca Josowitz, Jia Lu, Christine Falce, Sunita L D'Souza, Meng Wu, Ninette Cohen, Nicole C Dubois, Yong Zhao, Eric A Sobie, Glenn I Fishman, Bruce D Gelb

    Diterbitkan 2014-01-01
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  13. 13
    “Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results

    “Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results oleh Dana Watnick, Jacqueline A. Odgis, Sabrina A. Suckiel, Katie M. Gallagher, Nehama Teitelman, Katherine E. Donohue, Bruce D. Gelb, Eimear E. Kenny, Melissa P. Wasserstein, Carol R. Horowitz, Siobhan M. Dolan, Laurie J. Bauman

    Diterbitkan 2021-04-01
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  14. 14
    Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

    Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency oleh Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten

    Diterbitkan 2023-03-01
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  15. 15
    Quantitative Prediction of Right Ventricular Size and Function From the ECG

    Quantitative Prediction of Right Ventricular Size and Function From the ECG oleh Son Q. Duong, Akhil Vaid, Vy Thi Ha My, Liam R. Butler, Joshua Lampert, Robert H. Pass, Alexander W. Charney, Jagat Narula, Rohan Khera, Ankit Sakhuja, Hayit Greenspan, Bruce D. Gelb, Ron Do, Girish N. Nadkarni

    Diterbitkan 2024-01-01
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  16. 16
    Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo

    Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo oleh Ralf Gilsbach, Martin Schwaderer, Sebastian Preissl, Björn A. Grüning, David Kranzhöfer, Pedro Schneider, Thomas G. Nührenberg, Sonia Mulero-Navarro, Dieter Weichenhan, Christian Braun, Martina Dreßen, Adam R. Jacobs, Harald Lahm, Torsten Doenst, Rolf Backofen, Markus Krane, Bruce D. Gelb, Lutz Hein

    Diterbitkan 2018-01-01
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  17. 17
    The Congenital Heart Disease Genetic Network Study: Cohort description.

    The Congenital Heart Disease Genetic Network Study: Cohort description. oleh Thanh T Hoang, Elizabeth Goldmuntz, Amy E Roberts, Wendy K Chung, Jennie K Kline, John E Deanfield, Alessandro Giardini, Adolfo Aleman, Bruce D Gelb, Meghan Mac Neal, George A Porter, Richard Kim, Martina Brueckner, Richard P Lifton, Sharon Edman, Stacy Woyciechowski, Laura E Mitchell, A J Agopian

    Diterbitkan 2018-01-01
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  18. 18
    De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

    De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes oleh W. Scott Watkins, E. Javier Hernandez, Sergiusz Wesolowski, Brent W. Bisgrove, Ryan T. Sunderland, Edwin Lin, Gordon Lemmon, Bradley L. Demarest, Thomas A. Miller, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, Christine E. Seidman, Yufeng Shen, H. Joseph Yost, Mark Yandell, Martin Tristani-Firouzi

    Diterbitkan 2019-10-01
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  19. 19
    Loss of RNA expression and allele-specific expression associated with congenital heart disease

    Loss of RNA expression and allele-specific expression associated with congenital heart disease oleh David M. McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua Gorham, Steven R. DePalma, James S. Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P. Lifton, Wendy K. Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J. Sharp, Christine E. Seidman, Bruce D. Gelb, J. G. Seidman

    Diterbitkan 2016-09-01
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  20. 20
    Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.

    Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. oleh Alejandro Martin-Trujillo, Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Sarah U Morton, David M McKean, Steven R DePalma, Elizabeth Goldmuntz, Dorota Gruber, Richard Kim, Jane W Newburger, George A Porter, Alessandro Giardini, Daniel Bernstein, Martin Tristani-Firouzi, Jonathan G Seidman, Christine E Seidman, Wendy K Chung, Bruce D Gelb, Andrew J Sharp

    Diterbitkan 2020-11-01
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