Bilaketaren emaitzak - Ian Glass
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Joubert syndrome (and related disorders) (OMIM 213300) nork Melissa A. Parisi, Dan Doherty, Phillip F. Chance, Ian Glass
Argitaratua 2007Artigo -
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The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome nork 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
Argitaratua 2004Artigo -
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Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker nork 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
Argitaratua 1993Artigo -
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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome nork 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
Argitaratua 2007Carta -
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity nork 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
Argitaratua 2012Artigo -
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Single-Cell Transcriptomic Comparison of Human Fetal Retina, hPSC-Derived Retinal Organoids, and Long-Term Retinal Cultures nork 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
Argitaratua 2020Artigo -
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In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution nork 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
Argitaratua 2020Artigo -
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center nork 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
Argitaratua 2018Artigo -
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Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes nork 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
Argitaratua 2018Artigo -
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Mapping Development of the Human Intestinal Niche at Single-Cell Resolution nork 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
Argitaratua 2020Artigo -
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Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction nork 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
Argitaratua 2017Artigo -
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R-SPONDIN2 mesenchymal cells form the bud tip progenitor niche during human lung development nork 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
Argitaratua 2022Artigo -
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Retinoic acid signaling regulates spatiotemporal specification of human green and red cones nork 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
Argitaratua 2024Artigo -
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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda nork 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
Argitaratua 2001Artigo -
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Prospective Evaluation of Kidney Disease in Joubert Syndrome nork 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
Argitaratua 2017Artigo
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