অনুসন্ধান ফলাফলগুলি - Steven R. DePalma
- প্রদর্শন 1 - 20 ফলাফল এর 32
- পরবর্তী পৃষ্ঠায় যান
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Spectrum of somatic mitochondrial mutations in five cancers অনুযায়ী Tatianna Larman, Steven R. DePalma, Angela Hadjipanayis, Alexei Protopopov, Jianhua Zhang, Stacey Gabriel, Lynda Chin, Christine E. Seidman, Raju Kucherlapati, Jonathan G. Seidman
প্রকাশিত 2012Artigo -
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NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity অনুযায়ী 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
প্রকাশিত 2015Artigo -
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Molecular profiling of dilated cardiomyopathy that progresses to heart failure অনুযায়ী 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
প্রকাশিত 2016Artigo -
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A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders অনুযায়ী 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
প্রকাশিত 2005Artigo -
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Identification of pathogenic gene mutations in <i>LMNA</i> and <i>MYBPC3</i> that alter RNA splicing অনুযায়ী 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
প্রকাশিত 2017Artigo -
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<scp><i>HOXA</i></scp><i>2</i>Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss অনুযায়ী 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
প্রকাশিত 2013Artigo -
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Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation অনুযায়ী 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
প্রকাশিত 2021Artigo -
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Pathogenesis of Cardiomyopathy Caused by Variants in <i>ALPK3</i> , an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere অনুযায়ী 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
প্রকাশিত 2022Artigo -
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Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy অনুযায়ী 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
প্রকাশিত 2000Artigo -
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Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation অনুযায়ী 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
প্রকাশিত 2010Artigo -
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Discordant clinical features of identical hypertrophic cardiomyopathy twins অনুযায়ী 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
প্রকাশিত 2021Artigo -
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Loss of RNA expression and allele-specific expression associated with congenital heart disease অনুযায়ী 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
প্রকাশিত 2016Artigo -
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Increased Burden of Cardiovascular Disease in Carriers of <i>APOL1</i> Genetic Variants অনুযায়ী 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
প্রকাশিত 2013Artigo -
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5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy অনুযায়ী 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
প্রকাশিত 2014Artigo -
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<i>THSD1</i> (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage অনুযায়ী 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
প্রকাশিত 2016Artigo -
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An ancient founder mutation located between<i>ROBO1</i>and<i>ROBO2</i>is responsible for increased microtia risk in Amerindigenous populations অনুযায়ী 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
প্রকাশিত 2022Artigo -
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Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts অনুযায়ী 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
প্রকাশিত 2012Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Genetics
Gene
Medicine
Internal medicine
Mutation
Cardiomyopathy
Heart failure
Phenotype
Cardiology
Disease
Heart disease
Missense mutation
Myocyte
Sarcomere
Anatomy
Exome
Exome sequencing
Dilated cardiomyopathy
Gene expression
Genotype
Allele
Biochemistry
Cell biology
Computational biology
Environmental health
Genome
Haploinsufficiency
Hypertrophic cardiomyopathy
Locus (genetics)