檢索結果 - Ian Glass

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  1. 1
    X linked mental retardation.

    X linked mental retardation. 由 Ian Glass

    出版 1991
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    Revisão
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  2. 2
    Joubert syndrome (and related disorders) (OMIM 213300)

    Joubert syndrome (and related disorders) (OMIM 213300) 由 Melissa A. Parisi, Dan Doherty, Phillip F. Chance, Ian Glass

    出版 2007
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    Artigo
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  3. 3
    PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice

    PI3K-Yap activity drives cortical gyrification and hydrocephalus in mice 由 Achira Roy, Rory Murphy, Mei Deng, James W. MacDonald, Theo K. Bammler, Kimberly A. Aldinger, Ian Glass, Kathleen J. Millen

    出版 2019
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  4. 4
    Chromosomal instability in human trophoblast stem cells and placentas

    Chromosomal instability in human trophoblast stem cells and placentas 由 Danyang Wang, Andrew Cearlock, Katherine Lane, Chongchong Xu, Ian Jan, Stephen A. McCartney, Ian Glass, Rajiv C. McCoy, Min Yang

    出版 2025
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  5. 5
    The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

    The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome 由 Melissa A. Parisi, Craig L. Bennett, Melissa Eckert, William B. Dobyns, Joseph G. Gleeson, Dennis Shaw, Ruth McDonald, Allison A. Eddy, Phillip F. Chance, Ian Glass

    出版 2004
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    Artigo
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  6. 6
    Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker

    Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker 由 Peggy Shelbourne, June Davies, Jessica L. Buxton, Maria Anvret, Elisabeth Blennow, M Bonduelle, Eric Schmedding, Ian Glass, R H Lindenbaum, Russell J.M. Lane, Robert Williamson, Keith Johnson

    出版 1993
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    Artigo
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  7. 7
    Differentiation of Human Intestinal Organoids with Endogenous Vascular Endothelial Cells

    Differentiation of Human Intestinal Organoids with Endogenous Vascular Endothelial Cells 由 Emily M. Holloway, Joshua H. Wu, Michael Czerwinski, Caden W. Sweet, Angeline Wu, Yu-Hwai Tsai, Sha Huang, Amy E. Stoddard, Meghan M. Capeling, Ian Glass, Jason R. Spence

    出版 2020
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    Artigo
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  8. 8
    Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome

    Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome 由 Josiane Hélou, Edgar A. Otto, Massimo Attanasio, S. J. Allen, Melissa A. Parisi, Ian Glass, Boris Utsch, S. Hashmi, Elisa Fazzi, Heymut Omran, John F. O’Toole, John A. Sayer, Friedhelm Hildebrandt

    出版 2007
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    Carta
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  9. 9
    A Report of Dizygous Monochorionic Twins

    A Report of Dizygous Monochorionic Twins 由 Vivienne Souter, Raj P. Kapur, Dale R. Nyholt, Kristen J. Skogerboe, David Myerson, Carl C.T. Ton, Kent E. Opheim, Thomas R. Easterling, Laurence E. Shields, Grant W. Montgomery, Ian Glass

    出版 2003
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    Artigo
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  10. 10
    Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

    Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity 由 Gisele E. Ishak, Jennifer C. Dempsey, Dennis Shaw, Hannah M. Tully, Margaret P Adam, Pedro A. Sanchez‐Lara, Ian Glass, Tessa Rue, Kathleen J. Millen, William B. Dobyns, Dan Doherty

    出版 2012
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    Artigo
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  11. 11
    Single-Cell Transcriptomic Comparison of Human Fetal Retina, hPSC-Derived Retinal Organoids, and Long-Term Retinal Cultures

    Single-Cell Transcriptomic Comparison of Human Fetal Retina, hPSC-Derived Retinal Organoids, and Long-Term Retinal Cultures 由 Akshayalakshmi Sridhar, Akina Hoshino, Connor Finkbeiner, Alex Chitsazan, Li Dai, Alexandra K. Haugan, Kayla M. Eschenbacher, Dana L. Jackson, Cole Trapnell, Olivia Bermingham‐McDonogh, Ian Glass, Thomas A. Reh

    出版 2020
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  12. 12
    In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution

    In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution 由 Alyssa J. Miller, Qianhui Yu, Michael Czerwinski, Yu-Hwai Tsai, Renee F. Conway, Angeline Wu, Emily M. Holloway, Taylor Walker, Ian Glass, Barbara Treutlein, J. Gray Camp, Jason R. Spence

    出版 2020
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    Artigo
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  13. 13
    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 由 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

    出版 2018
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    Artigo
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  14. 14
    Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes

    Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes 由 Brittany N. Whitley, Christina Lam, Hong Cui, Katrina Haude, Renkui Bai, Luis Escobar, Afifa Hamilton, Lauren Brady, Mark A. Tarnopolsky, Lauren Dengle, Jonathan Picker, Sharyn A. Lincoln, Laura L. Lackner, Ian Glass, Suzanne Hoppins

    出版 2018
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    Artigo
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  15. 15
    Mapping Development of the Human Intestinal Niche at Single-Cell Resolution

    Mapping Development of the Human Intestinal Niche at Single-Cell Resolution 由 Emily M. Holloway, Michael Czerwinski, Yu-Hwai Tsai, Joshua H. Wu, Angeline Wu, Charlie J. Childs, Katherine D. Walton, Caden W. Sweet, Qianhui Yu, Ian Glass, Barbara Treutlein, J. Gray Camp, Jason R. Spence

    出版 2020
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    Artigo
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  16. 16
    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction 由 Miroslav P. Milev, Megan E. Grout, Djenann Saint‐Dic, Yong-Han Hank Cheng, Ian Glass, Christopher J. Hale, D. Hanna, Michael O. Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson

    出版 2017
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    Artigo
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  17. 17
    R-SPONDIN2 mesenchymal cells form the bud tip progenitor niche during human lung development

    R-SPONDIN2 mesenchymal cells form the bud tip progenitor niche during human lung development 由 Renee Hein, Joshua H. Wu, Emily M. Holloway, Tristan Frum, Ansley S. Conchola, Yu-Hwai Tsai, Angeline Wu, Alexis S. Fine, Alyssa J. Miller, Emmanuelle Szenker‐Ravi, Kelley S. Yan, Calvin J. Kuo, Ian Glass, Bruno Reversade, Jason R. Spence

    出版 2022
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    Artigo
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  18. 18
    Retinoic acid signaling regulates spatiotemporal specification of human green and red cones

    Retinoic acid signaling regulates spatiotemporal specification of human green and red cones 由 Sarah E. Hadyniak, Joanna F. D. Hagen, Kiara C. Eldred, Boris Brenerman, Katarzyna A. Hussey, Rajiv C. McCoy, Michael Sauria, James A. Kuchenbecker, Thomas A. Reh, Ian Glass, Maureen Neitz, Jay Neitz, James Taylor, Robert J. Johnston

    出版 2024
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    Artigo
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  19. 19
    The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

    The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda 由 Ági K. Gedeon, George E. Tiller, M. Le Merrer, S. Heuertz, Lisbeth Tranebjærg, David Chitayat, Stephen P. Robertson, Ian Glass, Ravi Savarirayan, William G. Cole, David L. Rimoin, Boris G. Kousseff, Hirofumi Ohashi, Bernhard Zabel, Arnold Münnich, Jozef Gécz, John C. Mulley

    出版 2001
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    Artigo
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  20. 20
    Prospective Evaluation of Kidney Disease in Joubert Syndrome

    Prospective Evaluation of Kidney Disease in Joubert Syndrome 由 Leah R. Fleming, Daniel Doherty, Melissa A. Parisi, Ian Glass, Joy Bryant, Roxanne Fischer, Barış Türkbey, Peter L. Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine V. Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay‐Aygun

    出版 2017
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