Deep Blue: Browsing by Author "Jacher, Joseph E."

Expanding the phenotypic spectrum of MBOAT7‐related intellectual disability

Jacher, Joseph E.; Roy, Nikita; Ghaziuddin, Mohammad; Innis, Jeffrey W. (John Wiley & Sons, Inc., 2019-10)

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Interstitial microdeletion of the 1p34.3p34.2 region

Jacher, Joseph E.; Innis, Jeffrey W. (Wiley Periodicals, Inc., 2018-07)

(151KB)

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Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Kang, Seok Kyu; Vanoye, Carlos G.; Misra, Sunita N.; Echevarria, Dennis M.; Calhoun, Jeffrey D.; O’Connor, John B.; Fabre, Katarina L.; McKnight, Dianalee; Demmer, Laurie; Goldenberg, Paula; Grote, Lauren E.; Thiffault, Isabelle; Saunders, Carol; Strauss, Kevin A.; Torkamani, Ali; der Smagt, Jasper; Gassen, Koen; Carson, Robert P.; Diaz, Jullianne; Leon, Eyby; Jacher, Joseph E.; Hannibal, Mark C.; Litwin, Jessica; Friedman, Neil R.; Schreiber, Allison; Lynch, Bryan; Poduri, Annapurna; Marsh, Eric D.; Goldberg, Ethan M.; Millichap, John J.; George, Alfred L.; Kearney, Jennifer A. (John Wiley & Sons, Inc., 2019-12)

(13.3MB)

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