Hasil Pencarian - Pankaj B Agrawal

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  1. 1
    Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease

    Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease oleh Shiyu Luo, Samantha M. Rosen, Qifei Li, Pankaj B. Agrawal

    Diterbitkan 2021-05-01
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  2. 2
    Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

    Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. oleh Sarah U Morton, Mugdha Joshi, Talia Savic, Alan H Beggs, Pankaj B Agrawal

    Diterbitkan 2015-01-01
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  3. 3
    microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy

    microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy oleh Sarah U. Morton, Christopher R. Sefton, Huanqing Zhang, Manhong Dai, David L. Turner, Michael D. Uhler, Pankaj B. Agrawal

    Diterbitkan 2021-03-01
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  4. 4
    Integrating rapid exome sequencing into NICU clinical care after a pilot research study

    Integrating rapid exome sequencing into NICU clinical care after a pilot research study oleh Alissa M. D’Gama, Maya C. Del Rosario, Mairead A. Bresnahan, Timothy W. Yu, Monica H. Wojcik, Pankaj B. Agrawal

    Diterbitkan 2022-09-01
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  5. 5
    A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

    A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene oleh Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai

    Diterbitkan 2024-03-01
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  6. 6
    HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

    HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells oleh Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin, Anne Fulton, Jing Chen, Pankaj B. Agrawal

    Diterbitkan 2024-08-01
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  7. 7
    Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

    Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model oleh Qifei Li, Jasmine Lin, Jeffrey J. Widrick, Shiyu Luo, Gu Li, Yuanfan Zhang, Jocelyn Laporte, Mark A. Perrella, Xiaoli Liu, Pankaj B. Agrawal

    Diterbitkan 2022-08-01
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  8. 8
    Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex

    Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex oleh Qifei Li, Jasmine Lin, Shiyu Luo, Klaus Schmitz‐Abe, Rohan Agrawal, Melissa Meng, Behzad Moghadaszadeh, Alan H. Beggs, Xiaoli Liu, Mark A. Perrella, Pankaj B. Agrawal

    Diterbitkan 2024-06-01
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  9. 9
    An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

    An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations oleh Frances O. Flanagan, Alexander M. Holtz, Sara O. Vargas, Casie A. Genetti, Klaus Schmitz-Abe, Alicia Casey, John C. Kennedy, Benjamin A. Raby, Mary P. Mullen, Martha P. Fishman, Pankaj B. Agrawal

    Diterbitkan 2023-03-01
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  10. 10
    Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort

    Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort oleh Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N. Yu, Stuart Bauer, Charles Berde, Pankaj B. Agrawal, Alan H. Beggs, Ali G. Gharavi, Louis Kunkel, Catherine A. Brownstein

    Diterbitkan 2023-03-01
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  11. 11
    Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

    Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency oleh Xin Fan, Bobo Xie, Jun Zou, Jingsi Luo, Zailong Qin, Alissa M. D'Gama, Jiahai Shi, Shang Yi, Qi Yang, Jin Wang, Shiyu Luo, Shaoke Chen, Pankaj B. Agrawal, Qifei Li, Yiping Shen

    Diterbitkan 2018-09-01
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  12. 12
    An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis

    An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis oleh Patricia R. Peter, MD, Catherine A. Brownstein, PhD, Gang-Qing Yao, MD, Elizabeth A. Olear, MS, MA, Christine A. Simpson, MS, MT (ASCP), Pankaj B. Agrawal, MD, MMSC, Thomas O. Carpenter, MD, Karl L. Insogna, MD

    Diterbitkan 2016-01-01
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  13. 13
    De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

    De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report oleh Chrystal F. Mavros, Catherine A. Brownstein, Roshni Thyagrajan, Casie A. Genetti, Sahil Tembulkar, Kelsey Graber, Quinn Murphy, Kristin Cabral, Grace E. VanNoy, Matthew Bainbridge, Jiahai Shi, Pankaj B. Agrawal, Alan H. Beggs, Eugene D’Angelo, Joseph Gonzalez-Heydrich

    Diterbitkan 2018-11-01
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  14. 14
    Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.

    Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation. oleh Amy E O'Connell, Maxim V Gerashchenko, Marie-Francoise O'Donohue, Samantha M Rosen, Eric Huntzinger, Diane Gleeson, Antonella Galli, Edward Ryder, Siqi Cao, Quinn Murphy, Shideh Kazerounian, Sarah U Morton, Klaus Schmitz-Abe, Vadim N Gladyshev, Pierre-Emmanuel Gleizes, Bertrand Séraphin, Pankaj B Agrawal

    Diterbitkan 2019-02-01
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  15. 15
    Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure

    Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure oleh Chang Shu, Chang Shu, He Huang, He Huang, Ying Xu, Ying Xu, Marcello Rota, Marcello Rota, Marcello Rota, Andrea Sorrentino, Andrea Sorrentino, Yuan Peng, Robert F. Padera, Robert F. Padera, Virginia Huntoon, Pankaj B. Agrawal, Xiaoli Liu, Xiaoli Liu, Mark A. Perrella, Mark A. Perrella

    Diterbitkan 2018-07-01
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  16. 16
    WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine ProductionSummary

    WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine ProductionSummary oleh Amy E. O’Connell, Sathuwarman Raveenthiraraj, Luiz Fernando Silva Oliveira, Comfort Adegboye, Venkata Siva Dasuri, Wanshu Qi, Radhika S. Khetani, Akaljot Singh, Nambirajam Sundaram, Jasmine Lin, Prathima Nandivada, Lorena Rincón-Cruz, Jeffrey D. Goldsmith, Jay R. Thiagarajah, Diana L. Carlone, Jerrold R. Turner, Pankaj B. Agrawal, Michael Helmrath, David T. Breault

    Diterbitkan 2024-01-01
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  17. 17
    A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

    A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders oleh Jignesh R. Parikh, Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz-Abe, Morgan Danowski, Andrew Quitadomo, Jill A. Madden, Calum Yacoubian, Richard Gain, Tessa Williams, Mary Meskell, Andrew Brown, Alison Frith, Shira Rockowitz, Piotr Sliz, Pankaj B. Agrawal, Thomas Defay, Paul McDonagh, John Reynders, Sebastien Lefebvre, Alan H. Beggs

    Diterbitkan 2021-07-01
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  18. 18
    A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.

    A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. oleh Qifei Li, Michal Dibus, Alicia Casey, Christina S K Yee, Sara O Vargas, Shiyu Luo, Samantha M Rosen, Jill A Madden, Casie A Genetti, Jan Brabek, Catherine A Brownstein, Shideh Kazerounian, Benjamin A Raby, Klaus Schmitz-Abe, John C Kennedy, Martha P Fishman, Mary P Mullen, Joan M Taylor, Daniel Rosel, Pankaj B Agrawal

    Diterbitkan 2021-07-01
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  19. 19
    Withdrawn Article

    Withdrawn Article oleh Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen Sweadner, Kevin X. Liu, Chrystal Mavros, Niklas Smedemark-Margulies, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich

    Diterbitkan 2019-03-01
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  20. 20
    De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

    De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome oleh Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen J. Sweadner, Chrystal Mavros, Kevin X. Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich

    Diterbitkan 2018-09-01
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