检索结果 - Sherr, Elliott

Epileptic Encephalopathies: New Genes and New Pathways 由 Esmaeeli Nieh, Sahar, Sherr, Elliott H.

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A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria 由 Bassuk, Alexander G., Sherr, Elliott H.

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Agenesis of the Corpus Callosum in California 1983−2003: A Population-Based Study 由 Glass, Hannah C., Shaw, Gary M., Ma, Chen, Sherr, Elliott H.

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Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes 由 Edwards, Timothy J., Sherr, Elliott H., Barkovich, A. James, Richards, Linda J.

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Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability 由 Edwards, Timothy J., Sherr, Elliott H., Barkovich, A. James, Richards, Linda J.

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Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures 由 Numis, Adam L., da Gente, Gilberto, Sherr, Elliott H., Glass, Hannah C.

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Individuals with agenesis of the corpus callosum show sensory processing differences as measured by the Sensory Profile 由 Demopoulos, Carly, Arroyo, Monica S., Dunn, Winnie, Strominger, Zoe, Sherr, Elliott H., Marco, Elysa

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Integrated stress response inhibition provides sex-dependent protection against noise-induced cochlear synaptopathy 由 Rouse, Stephanie L., Matthews, Ian R., Li, Jiang, Sherr, Elliott H., Chan, Dylan K.

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Diffusion Tensor Imaging of Aicardi Syndrome 由 Wahl, Michael, Strominger, Zoe A., Wakahiro, Mari, Jeremy, Rita J., Mukherjee, Pratik, Sherr, Elliott H.

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Detection of identity by descent using next-generation whole genome sequencing data 由 Su, Shu-Yi, Kasberger, Jay, Baranzini, Sergio, Byerley, William, Liao, Wilson, Oksenberg, Jorge, Sherr, Elliott, Jorgenson, Eric

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T1 Hyperintensity in the Pulvinar: Key Imaging Feature for Diagnosis of Fabry Disease 由 Takanashi, Jun-ichi, Barkovich, A. James, Dillon, William P., Sherr, Elliott H., Hart, Kimberly A., Packman, Seymour

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Identification of a Monogenic Locus (jams1) Causing Juvenile Audiogenic Seizures in Mice 由 Misawa, Hidemi, Sherr, Elliott H., Lee, David J., Chetkovich, Dane M., Tan, Andrew, Schreiner, Christoph E., Bredt, David S.

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Microstructural Correlations of White Matter Tracts in the Human Brain 由 Wahl, Michael, Li, Yi-Ou, Ng, Joshua, LaHue, Sara C., Cooper, Shelly R., Sherr, Elliott H., Mukherjee, Pratik

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Laterality of brain and ocular lesions in Aicardi Syndrome 由 Cabrera, Michelle T., Winn, Bryan J., Porco, Travis, Strominger, Zoe, Barkovich, A. James, Hoyt, Creig S., Wakahiro, Mari, Sherr, Elliott H.

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Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations 由 Lopez Jimenez, Nelson, Flannick, Jason, Yahyavi, Mani, Li, Jiang, Bardakjian, Tanya, Tonkin, Leath, Schneider, Adele, Sherr, Elliott H, Slavotinek, Anne M

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Mapk/Erk activation in an animal model of social deficits shows a possible link to autism 由 Faridar, Alireza, Jones-Davis, Dorothy, Rider, Eric, Li, Jiang, Gobius, Ilan, Morcom, Laura, Richards, Linda J, Sen, Saunak, Sherr, Elliott H

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Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions 由 Demopoulos, Carly, Kothare, Hardik, Mizuiri, Danielle, Henderson-Sabes, Jennifer, Fregeau, Brieana, Tjernagel, Jennifer, Houde, John F., Sherr, Elliott H., Nagarajan, Srikantan S.

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Processing Speed Delays Contribute to Executive Function Deficits in Individuals with Agenesis of the Corpus Callosum 由 Marco, Elysa J., Harrell, Kathryn M., Brown, Warren S., Hill, Susanna S., Jeremy, Rita J., Kramer, Joel H., Sherr, Elliott H., Paul, Lynn K.

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Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction 由 Marco, Elysa Jill, Aitken, Anne Brandes, Nair, Vishnu Prakas, da Gente, Gilberto, Gerdes, Molly Rae, Bologlu, Leyla, Thomas, Sean, Sherr, Elliott H.

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Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss 由 Li, Jiang, Akil, Omar, Rouse, Stephanie L., McLaughlin, Conor W., Matthews, Ian R., Lustig, Lawrence R., Chan, Dylan K., Sherr, Elliott H.

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