Search Results - Steven R. DePalma

Refine Results
  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 by K. Tsuji, H C Tsien, R S Hanson, Steven R. DePalma, R. Scholtz, Sandrine Laroche

    Published 1990
    Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35

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

    Published 2009
    Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Spectrum of somatic mitochondrial mutations in five cancers

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

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    A Nonsense Mutation in MSX1 Causes Witkop Syndrome

    A Nonsense Mutation in MSX1 Causes Witkop Syndrome by 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

    Published 2001
    Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Molecular profiling of dilated cardiomyopathy that progresses to heart failure

    Molecular profiling of dilated cardiomyopathy that progresses to heart failure by 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

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2005
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

    Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation by 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

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2022
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

    Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy by 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

    Published 2000
    Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation

    Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation by 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

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Discordant clinical features of identical hypertrophic cardiomyopathy twins

    Discordant clinical features of identical hypertrophic cardiomyopathy twins by 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

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2016
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy

    5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy by 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

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2016
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2022
    Get full text
    Artigo
    Save to List
    Saved in:
  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 by 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

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: