Výsledky vyhledávání - Brian P. Brooks

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  1. 1
    Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease

    Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease Autor Brian P. Brooks, Kenneth H. Fischbeck

    Vydáno 1995
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  2. 2
    Pharmacologic profile of MDMA (3,4-methylenedioxymethamphetamine) at various brain recognition sites

    Pharmacologic profile of MDMA (3,4-methylenedioxymethamphetamine) at various brain recognition sites Autor George Battaglia, Brian P. Brooks, Chaiyaporn Kulsakdinun, Errol B. De Souza

    Vydáno 1988
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  3. 3
    Cone Rod Homeobox ( <i>CRX</i> ): literature review and new insights

    Cone Rod Homeobox ( <i>CRX</i> ): literature review and new insights Autor Arnold Leigh, Anand Swaroop, Kamil Kruczek, Ehsan Ullah, Brian P. Brooks

    Vydáno 2025
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  4. 4
    Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity

    Albinism-Causing Mutations in Recombinant Human Tyrosinase Alter Intrinsic Enzymatic Activity Autor Monika B. Dolinska, Elena G. Kovaleva, Peter S. Backlund, Paul T. Wingfield, Brian P. Brooks, Yuri V. Sergeev

    Vydáno 2014
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  5. 5
    Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity

    Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity Autor Monika B. Dolinska, Nicole J. Kus, S. Katie Farney, Paul T. Wingfield, Brian P. Brooks, Yuri V. Sergeev

    Vydáno 2016
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  6. 6
    Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks

    Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks Autor John M. Bryan, Temesgen Fufa, Kapil Bharti, Brian P. Brooks, Robert B. Hufnagel, David McGaughey

    Vydáno 2018
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  7. 7
    Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship

    Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship Autor Kenneth H. Kraemer, N J Patronas, Raphael Schiffmann, Brian P. Brooks, Deborah Tamura, John J. DiGiovanna

    Vydáno 2007
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  8. 8
    A Cell Culture Model for Androgen Effects in Motor Neurons

    A Cell Culture Model for Androgen Effects in Motor Neurons Autor Brian P. Brooks, Diane E. Merry, Henry L. Paulson, Andrew P. Lieberman, Dennis L. Kolson, Kenneth H. Fischbeck

    Vydáno 1998
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  9. 9
    Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

    Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency Autor Brian P. Brooks, A. Thompson, Jennifer L. Sloan, Irini Manoli, Nuria Carrillo, Wadih M. Zein, Charles P. Venditti

    Vydáno 2016
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  10. 10
    Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature

    Ophthalmic Manifestations and Histopathology of Xeroderma Pigmentosum: Two Clinicopathological Cases and a Review of the Literature Autor Hema L. Ramkumar, Brian P. Brooks, Xiaoguang Cao, Deborah Tamura, John J. DiGiovanna, Kenneth H. Kraemer, Chi‐Chao Chan

    Vydáno 2011
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  11. 11
    Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System

    Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System Autor Brian P. Brooks, Henry L. Paulson, Diane E. Merry, Edgar F. Salazar‐Grueso, Albert O. Brinkmann, Elizabeth M. Wilson, Kenneth H. Fischbeck

    Vydáno 1997
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  12. 12
    Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL

    Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL Autor Lorenzo Nichols, Ramakrishna P. Alur, Elangovan Boobalan, Yuri V. Sergeev, Rafael C. Caruso, Edwin M. Stone, Anand Swaroop, Mary A. Johnson, Brian P. Brooks

    Vydáno 2010
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  13. 13
    Developing Cellular Therapies for Retinal Degenerative Diseases

    Developing Cellular Therapies for Retinal Degenerative Diseases Autor Kapil Bharti, Mahendra S. Rao, Sara Chandros Hull, David Stroncek, Brian P. Brooks, Ellen G. Feigal, Jan C. van Meurs, Christene A. Huang, Sheldon S. Miller

    Vydáno 2014
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  14. 14
    Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion

    Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion Autor Holly Hardy, James Prendergast, Aara Patel, Sunit Dutta, Violeta Trejo-Reveles, Hannah Kroeger, Andrea R. Yung, Lisa V. Goodrich, Brian P. Brooks, Jane C. Sowden, Joe Rainger

    Vydáno 2019
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  15. 15
    Compound heterozygosity for mutations in <i>PAX6</i> in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

    Compound heterozygosity for mutations in <i>PAX6</i> in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia Autor Benjamin D. Solomon, Daniel Pineda‐Alvarez, Joan Z. Balog, Donald W. Hadley, Andrea Gropman, R. Nandagopal, Joan C. Han, Jin S. Hahn, Delphine Blain, Brian P. Brooks, Maximilian Muenke

    Vydáno 2009
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  16. 16
    Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance

    Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance Autor Penelope Feuillan, David Ng, Joan C. Han, Julie C. Sapp, Katie Wetsch, Emma Spaulding, Yuqian C. Zheng, Rafael C. Caruso, Brian P. Brooks, Jennifer J. Johnston, Jack A. Yanovski, Leslie G. Biesecker

    Vydáno 2011
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  17. 17
    Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids

    Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids Autor Kamil Kruczek, Zepeng Qu, James L. Gentry, Benjamin R. Fadl, Linn Gieser, Suja Hiriyanna, Zachary Batz, Mugdha D. Samant, A. Samanta, Colin J. Chu, Laura Campello, Brian P. Brooks, Zhijian Wu, Anand Swaroop

    Vydáno 2021
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  18. 18
    Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

    Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism Autor Ighovie F. Onojafe, David R. Adams, Dimitre R. Simeonov, Jun Zhang, Chi‐Chao Chan, Isa Bernardini, Yuri V. Sergeev, Monika B. Dolinska, Ramakrishna P. Alur, Murray H. Brilliant, William A. Gahl, Brian P. Brooks

    Vydáno 2011
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  19. 19
    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center Autor Brian P. Brooks, Wadih M. Zein, A. Thompson, Maryam Mokhtarzadeh, Dan Doherty, Melissa A. Parisi, Ian Glass, May Christine V. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay‐Aygun

    Vydáno 2018
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  20. 20
    The retinal pigmentation pathway in human albinism: Not so black and white

    The retinal pigmentation pathway in human albinism: Not so black and white Autor Reinier Bakker, Ellie L. Wagstaff, Charlotte C. Kruijt, Eszter Emri, Clara D.M. van Karnebeek, Michael B. Hoffmann, Brian P. Brooks, Camiel J.F. Boon, Lluı́s Montoliu, Maria M. van Genderen, Arthur A. Bergen

    Vydáno 2022
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