Hasil Pencarian - Robert B Hufnagel

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  1. 1
    Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts

    Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts oleh Stephanie L Santoro, Dema Atoum, Robert B Hufnagel, William W Motley

    Diterbitkan 2017-06-01
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  2. 2
    Genetics in Ophthalmology

    Genetics in Ophthalmology oleh Lev Prasov, Stephen T. Armenti, Virginia Miraldi Utz, Julia E. Richards, Robert B. Hufnagel

    Diterbitkan 2018-01-01
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  3. 3
    Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis

    Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis oleh Robert A. Sisk, Robert B. Hufnagel, Ailee Laham, Elizabeth S. Wohler, Nara Sobreira, Zubair M. Ahmed

    Diterbitkan 2018-01-01
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  4. 4
    MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells

    MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells oleh Rizwan Yousaf, Qinghang Meng, Robert B. Hufnagel, Ying Xia, Chandrakala Puligilla, Zubair M. Ahmed, Saima Riazuddin

    Diterbitkan 2015-12-01
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  5. 5
    Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

    Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma oleh Joao McONeil Plancher, Robert B. Hufnagel, Achala Vagal, Katrina Peariso, Howard M. Saal, Joseph P. Broderick

    Diterbitkan 2015-06-01
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  6. 6
    Sensitive extraction-free SARS-CoV-2 RNA virus detection using a chelating resin

    Sensitive extraction-free SARS-CoV-2 RNA virus detection using a chelating resin oleh Bin Guan, Karen M. Frank, José O. Maldonado, Margaret Beach, Eileen Pelayo, Blake M. Warner, Robert B. Hufnagel

    Diterbitkan 2021-09-01
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  7. 7
    A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure

    A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure oleh Keith S. K. Fong, Robert B. Hufnagel, Vedbar S. Khadka, Michael J. Corley, Alika K. Maunakea, Ben Fogelgren, Zubair M. Ahmed, Scott Lozanoff

    Diterbitkan 2016-05-01
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  8. 8
    Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways

    Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways oleh Ameera Mungale, David M. McGaughey, Congxiao Zhang, Sairah Yousaf, James Liu, Brian P. Brooks, Arvydas Maminishkis, Temesgen D. Fufa, Robert B. Hufnagel

    Diterbitkan 2022-11-01
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  9. 9
    Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

    Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features oleh Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber

    Diterbitkan 2019-11-01
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  10. 10
    Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

    Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. oleh Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A Fishman, Stephen H Tsang, Santa J Tumminia, Brian P Brooks, Robert B Hufnagel, Rui Chen, Rando Allikmets

    Diterbitkan 2022-03-01
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  11. 11
    Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome

    Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome oleh Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed

    Diterbitkan 2021-11-01
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  12. 12
    Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates

    Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates oleh Maximilian Pfau, Catherine A. Cukras, Laryssa A. Huryn, Wadih M. Zein, Ehsan Ullah, Marisa P. Boyle, Amy Turriff, Michelle A. Chen, Aarti S. Hinduja, Hermann E.A. Siebel, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks

    Diterbitkan 2022-01-01
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  13. 13
    Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy

    Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy oleh Joanne Li, Tao Liu, Oliver J. Flynn, Amy Turriff, Zhuolin Liu, Ehsan Ullah, Jianfei Liu, Alfredo Dubra, Mary A. Johnson, Brian P. Brooks, Robert B. Hufnagel, Daniel X. Hammer, Laryssa A. Huryn, Brett G. Jeffrey, Johnny Tam

    Diterbitkan 2021-03-01
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  14. 14
    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.

    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. oleh Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick

    Diterbitkan 2022-01-01
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  15. 15
    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

    Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia oleh Hildegard Nikki Hall, Hemant Bengani, Robert B. Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A. Marsh, Graeme R. Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M. Mannens, Veronica Van Heyningen, Joe Rainger, Brian P. Brooks, David R. FitzPatrick

    Diterbitkan 2022-01-01
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  16. 16
    Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics

    Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics oleh Nancy Aguilera, Tao Liu, Andrew J. Bower, Joanne Li, Sarah Abouassali, Rongwen Lu, John Giannini, Maximilian Pfau, Chelsea Bender, Margery G. Smelkinson, Amelia Naik, Bin Guan, Owen Schwartz, Andrei Volkov, Alfredo Dubra, Zhuolin Liu, Daniel X. Hammer, Dragan Maric, Robert Fariss, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks, Wadih M. Zein, Laryssa A. Huryn, Johnny Tam

    Diterbitkan 2022-09-01
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  17. 17
    Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

    Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia oleh Volha V. Malechka, MD, Dat Duong, PhD, Keyla D. Bordonada, MD, Amy Turriff, MS, Delphine Blain, MS, MBA, Elizabeth Murphy, PhD, Wendy J. Introne, MD, Bernadette R. Gochuico, MD, David R. Adams, MD, PhD, Wadih M. Zein, MD, Brian P. Brooks, MD, PhD, Laryssa A. Huryn, MD, Benjamin D. Solomon, MD, Robert B. Hufnagel, MD, PhD

    Diterbitkan 2023-03-01
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  18. 18
    AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration

    AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration oleh Kiyoharu J. Miyagishima, Ruchi Sharma, Malika Nimmagadda, Katharina Clore-Gronenborn, Zoya Qureshy, Davide Ortolan, Devika Bose, Mitra Farnoodian, Congxiao Zhang, Andrew Fausey, Yuri V. Sergeev, Mones Abu-Asab, Bokkyoo Jun, Khanh V. Do, Marie-Audrey Kautzman Guerin, Jorgelina Calandria, Aman George, Bin Guan, Qin Wan, Rachel C. Sharp, Catherine Cukras, Paul A. Sieving, Robert B. Hufnagel, Nicolas G. Bazan, Kathleen Boesze-Battaglia, Sheldon Miller, Kapil Bharti

    Diterbitkan 2021-12-01
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  19. 19
    Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

    Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. oleh Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov

    Diterbitkan 2019-05-01
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  20. 20
    The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

    The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors oleh Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams

    Diterbitkan 2024-01-01
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