Søgeresultater - Steven R. DePalma

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  1. 1
    16S ribosomal RNA sequence analysis for determination of phylogenetic relationship among methylotrophs

    16S ribosomal RNA sequence analysis for determination of phylogenetic relationship among methylotrophs af K. Tsuji, H C Tsien, R S Hanson, Steven R. DePalma, R. Scholtz, Sandrine Laroche

    Udgivet 1990
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  2. 2
    Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35

    Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35 af Fayez Bahmad, Steven R. DePalma, Saumil N. Merchant, Roberta Lemos Bezerra, Carlos Augusto Costa Pires de Oliveira, Christine E. Seidman, Jonathan G. Seidman

    Udgivet 2009
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  3. 3
    Spectrum of somatic mitochondrial mutations in five cancers

    Spectrum of somatic mitochondrial mutations in five cancers af Tatianna Larman, Steven R. DePalma, Angela Hadjipanayis, Alexei Protopopov, Jianhua Zhang, Stacey Gabriel, Lynda Chin, Christine E. Seidman, Raju Kucherlapati, Jonathan G. Seidman

    Udgivet 2012
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  4. 4
    NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity

    NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity af Ossama Abou Hassan, Akl C. Fahed, Manal Batrawi, Mariam Arabi, Marwan M. Refaat, Steven R. DePalma, Jonathan G. Seidman, Christine E. Seidman, Fadi Bitar, Georges Nemer

    Udgivet 2015
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  5. 5
    A Nonsense Mutation in MSX1 Causes Witkop Syndrome

    A Nonsense Mutation in MSX1 Causes Witkop Syndrome af Dolrudee Jumlongras, Marianna Bei, Jean M. Stimson, Wen-Fang Wang, Steven R. DePalma, Christine E. Seidman, Ute Felbor, Richard L. Maas, Jonathan G. Seidman, Bjørn R. Olsen

    Udgivet 2001
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  6. 6
    Molecular profiling of dilated cardiomyopathy that progresses to heart failure

    Molecular profiling of dilated cardiomyopathy that progresses to heart failure af Michael A. Burke, Stephen Chang, Hiroko Wakimoto, Joshua M. Gorham, David A. Conner, Danos C. Christodoulou, Michael Parfenov, Steven R. DePalma, Seda Eminaga, Tetsuo Konno, Jonathan G. Seidman, Christine E. Seidman

    Udgivet 2016
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  7. 7
    A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

    A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders af Robert Gensure, Outi Mäkitie, Catherine Barclay, Catherine Chan, Steven R. DePalma, Murat Bastepe, H. Abuzahra, Richard Couper, Stefan Mundlos, David Sillence, Leena Ala Kokko, Jonathan G. Seidman, William G. Cole, Harald Jüppner

    Udgivet 2005
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  8. 8
    Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing

    Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing af Kaoru Ito, Parth Patel, Joshua M. Gorham, Barbara McDonough, Steven R. DePalma, Emily E. Adler, Lien Lam, Calum A. MacRae, Syed M. Mohiuddin, Diane Fatkin, Christine E. Seidman, J G Seidman

    Udgivet 2017
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  9. 9
    <scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

    <scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss af Kerry K. Brown, Lucas Moura Viana, Cecilia C. Helwig, Maria A. Artunduaga, Lourdes Quintanilla‐Dieck, Patricia Jarrin, Gabriel Osorno, Barbara McDonough, Steven R. DePalma, Roland D. Eavey, Jonathan G. Seidman, Christine E. Seidman

    Udgivet 2013
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  10. 10
    Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

    Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation af Radhika Agarwal, João A. Paulo, Christopher N. Toepfer, Jourdan K. Ewoldt, Subramanian Sundaram, Anant Chopra, Qi Zhang, Joshua M. Gorham, Steven R. DePalma, Christopher S. Chen, Steven P. Gygi, Christine E. Seidman, Jonathan G. Seidman

    Udgivet 2021
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  11. 11
    Pathogenesis of Cardiomyopathy Caused by Variants in <i>ALPK3</i> , an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere

    Pathogenesis of Cardiomyopathy Caused by Variants in <i>ALPK3</i> , an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere af Radhika Agarwal, Hiroko Wakimoto, João A. Paulo, Qi Zhang, Daniel Reichart, Christopher N. Toepfer, Arun Sharma, Angela C. Tai, Mingyue Lun, Joshua M. Gorham, Steven R. DePalma, Steven P. Gygi, Jonathan G. Seidman, Christine E. Seidman

    Udgivet 2022
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  12. 12
    Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

    Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy af Mitsuhiro Kamisago, Sapna Sharma, Steven R. DePalma, Scott D. Solomon, Pankaj Sharma, Barbara McDonough, Leslie Smoot, Mary P. Mullen, Paul K. Woolf, E. Douglas Wigle, J G Seidman, John A. Jarcho, Lawrence R. Shapiro, Christine E. Seidman

    Udgivet 2000
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  13. 13
    Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation

    Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation af Neal K. Lakdawala, Lisa Dellefave, Charles Redwood, Elizabeth Sparks, Allison L. Cirino, Steven R. DePalma, Steven D. Colan, Birgit Funke, Rebekah Zimmerman, Paul Robinson, Hugh Watkins, Christine E. Seidman, Jonathan G. Seidman, Elizabeth M. McNally, Carolyn Y. Ho

    Udgivet 2010
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  14. 14
    Discordant clinical features of identical hypertrophic cardiomyopathy twins

    Discordant clinical features of identical hypertrophic cardiomyopathy twins af Giuliana G. Repetti, Yuri Kim, Alexandre C. Pereira, Jodie Ingles, Mark W. Russell, Neal K. Lakdawala, Carolyn Y. Ho, Sharlene M. Day, Christopher Semsarian, Barbara McDonough, Steven R. DePalma, Daniel Quiat, Eric M. Green, Christine E. Seidman, Jonathan G. Seidman

    Udgivet 2021
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  15. 15
    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 af David McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua M. 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

    Udgivet 2016
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  16. 16
    Increased Burden of Cardiovascular Disease in Carriers of <i>APOL1</i> Genetic Variants

    Increased Burden of Cardiovascular Disease in Carriers of <i>APOL1</i> Genetic Variants af Kaoru Ito, Alexander G. Bick, Jason Flannick, David J. Friedman, Giulio Genovese, Michael Parfenov, Steven R. DePalma, Namrata Gupta, Stacey Gabriel, Herman A. Taylor, Ervin R. Fox, Christopher Newton‐Cheh, Sekar Kathiresan, Joel N. Hirschhorn, David Altshuler, Martin R. Pollak, James G. Wilson, Jonathan G. Seidman, Christine E. Seidman

    Udgivet 2013
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  17. 17
    5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy

    5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy af Danos C. Christodoulou, Hiroko Wakimoto, Kenji Onoue, Seda Eminaga, Joshua M. Gorham, Steven R. DePalma, Daniel S. Herman, Polakit Teekakirikul, David A. Conner, David McKean, Andrea A. Domenighetti, Anton Aboukhalil, Stephen Chang, Gyan Srivastava, Barbara McDonough, Philip L. De Jager, Ju Chen, Martha L. Bulyk, Jochen D. Muehlschlegel, Christine E. Seidman, J G Seidman

    Udgivet 2014
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  18. 18
    <i>THSD1</i> (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

    <i>THSD1</i> (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage af Teresa Santiago‐Sim, Xiaoqian Fang, Morgan L. Hennessy, Stephen V. Nalbach, Steven R. DePalma, Ming Sum Lee, Steven C. Greenway, Barbara McDonough, Georgene W. Hergenroeder, Kyla Patek, Sarah M. Colosimo, Krista J. Qualmann, John P. Hagan, Dianna M. Milewicz, Calum A. MacRae, Susan M. Dymecki, Christine E. Seidman, J.G. Seidman, Dong Kim

    Udgivet 2016
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  19. 19
    An ancient founder mutation located between<i>ROBO1</i>and<i>ROBO2</i>is responsible for increased microtia risk in Amerindigenous populations

    An ancient founder mutation located between<i>ROBO1</i>and<i>ROBO2</i>is responsible for increased microtia risk in Amerindigenous populations af Daniel Quiat, Seong Won Kim, Qi Zhang, Sarah U. Morton, Alexandre C. Pereira, Steven R. DePalma, Jon A. L. Willcox, Barbara McDonough, Daniel M. DeLaughter, Joshua M. Gorham, Justin J. Curran, Melissa Tumblin, Yamileth Nicolau, Maria A. Artunduaga, Lourdes Quintanilla‐Dieck, Gabriel Osorno, Luís Serrano, Usama S. Hamdan, Roland D. Eavey, Christine E. Seidman, Jonathan G. Seidman

    Udgivet 2022
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  20. 20
    Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

    Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts af Alexander G. Bick, Jason Flannick, Kaoru Ito, Susan Cheng, Ramachandran S. Vasan, Michael Parfenov, Daniel S. Herman, Steven R. DePalma, Namrata Gupta, Stacey Gabriel, Birgit H. Funke, Heidi L. Rehm, Emelia J. Benjamin, Jayashri Aragam, Herman A. Taylor, Ervin R. Fox, Christopher Newton‐Cheh, Sekar Kathiresan, Christopher J. O’Donnell, James Wilson, David Altshuler, Joel N. Hirschhorn, J G Seidman, Christine E. Seidman

    Udgivet 2012
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