Resultados de procura - Engle, Elizabeth C.

Human Genetic Disorders of Axon Guidance por Engle, Elizabeth C.

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Allelic diversity in human developmental neurogenetics: insights into biology and disease por Walsh, Christopher A., Engle, Elizabeth C.

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Distinct α and β–tubulin isotypes are required for the positioning, differentiation, and survival of neurons: new support for the “multi-tubulin” hypothesis por Tischfield, Max A., Engle, Elizabeth C.

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Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance por Whitman, Mary C., Engle, Elizabeth C.

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Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders por Oystreck, Darren T., Engle, Elizabeth C., Bosley, Thomas M.

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Abnormalities of the Oculomotor Nerve in Congenital Fibrosis of the Extraocular Muscles and Congenital Oculomotor Palsy por Lim, Key Hwan, Engle, Elizabeth C., Demer, Joseph L.

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Human Disorders of Axon Guidance por Nugent, Alicia A., Kolpak, Adrianne L., Engle, Elizabeth C.

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The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease: The Genetic Basis of Incomitant Strabismus por Graeber, Carolyn P., Hunter, David G., Engle, Elizabeth C.

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Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata por Flaherty, Maree P, Balachandran, Chandra, Jamieson, Robyn, Engle, Elizabeth C

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Two pedigrees segregating Duane’s retraction syndrome as a dominant trait map to the DURS2 genetic locus por Engle, Elizabeth C., Andrews, Caroline, Law, Krystal, Demer, Joseph L.

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Analysis of human sarcospan as a candidate gene for CFEOM1 por O'Brien, Kristine F, Engle, Elizabeth C, Kunkel, Louis M

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High-Resolution Magnetic Resonance Imaging Demonstrates Abnormalities of Motor Nerves and Extraocular Muscles in Patients With Neuropathic Strabismus por Demer, Joseph L., Ortube, Maria Carolina, Engle, Elizabeth C., Thacker, Neepa

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HOXA1 mutations are not a common cause of Möbius syndrome por Rankin, Jessica K., Andrews, Caroline, Chan, Wai-Man, Engle, Elizabeth C.

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A framework for the evaluation of patients with congenital facial weakness por Webb, Bryn D., Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin W.

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Magnetic Resonance Imaging Evidence for Widespread Orbital Dysinnervation in Dominant Duane’s Retraction Syndrome Linked to the DURS2 Locus por Demer, Joseph L., Clark, Robert A., Lim, Key-Hwan, Engle, Elizabeth C.

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Magnetic Resonance Imaging of Innervational And Extraocular Muscle Abnormalities In Duane-Radial Ray Syndrome por Demer, Joseph L., Clark, Robert A., Lim, Key Hwan, Engle, Elizabeth C.

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Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Resulting from TUBB3 Mutations por Demer, Joseph L., Clark, Robert A., Tischfield, Max A., Engle, Elizabeth C.

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Phenotypic spectrum of the Tubulin-related Disorders and Functional Implications of Disease-causing Mutations por Tischfield, Max A., Cederquist, Gustav Y., Gupta, Mohan L., Engle, Elizabeth C.

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Crystalline cataract caused by a heterozygous missense mutation in γD-crystallin (CRYGD) por VanderVeen, Deborah K., Andrews, Caroline, Nihalani, Bharti R., Engle, Elizabeth C.

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Ex vivo oculomotor slice culture from embryonic GFP-expressing mice for time-lapse imaging of oculomotor nerve outgrowth por Whitman, Mary C., Bell, Jessica L., Nguyen, Elaine H., Engle, Elizabeth C.

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