Αποτελέσματα αναζήτησης - Ian Glass
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X linked mental retardation. από Ian Glass
Έκδοση 1991Revisão -
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The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome από 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
Έκδοση 2004Artigo -
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Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker από 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
Έκδοση 1993Artigo -
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Differentiation of Human Intestinal Organoids with Endogenous Vascular Endothelial Cells από 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
Έκδοση 2020Artigo -
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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome από 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
Έκδοση 2007Carta -
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity από 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
Έκδοση 2012Artigo -
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Single-Cell Transcriptomic Comparison of Human Fetal Retina, hPSC-Derived Retinal Organoids, and Long-Term Retinal Cultures από 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
Έκδοση 2020Artigo -
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In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution από 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
Έκδοση 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 από 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
Έκδοση 2018Artigo -
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Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes από 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
Έκδοση 2018Artigo -
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Mapping Development of the Human Intestinal Niche at Single-Cell Resolution από 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
Έκδοση 2020Artigo -
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Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction από 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
Έκδοση 2017Artigo -
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R-SPONDIN2 mesenchymal cells form the bud tip progenitor niche during human lung development από 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
Έκδοση 2022Artigo -
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Retinoic acid signaling regulates spatiotemporal specification of human green and red cones από 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
Έκδοση 2024Artigo -
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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda από 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
Έκδοση 2001Artigo -
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Prospective Evaluation of Kidney Disease in Joubert Syndrome από 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
Έκδοση 2017Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Genetics
Gene
Cell biology
Medicine
Neuroscience
Phenotype
Joubert syndrome
Computational biology
Internal medicine
Stem cell
Pathology
Cilium
Gene expression
Mutation
Anatomy
Ciliopathy
Genome
Immunology
Progenitor cell
Cerebellum
Transcriptome
Biochemistry
Cell
Disease
Exome sequencing
Transcription factor
Endocrinology
Fetus
Organoid