Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Syndrome and TBC1D24[original query] |
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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep . Mucha Bettina E, Banka Siddharth, Ajeawung Norbert Fonya, Molidperee Sirinart, Chen Gary G, Koenig Mary Kay, Adejumo Rhamat B, Till Marianne, Harbord Michael, Perrier Renee, Lemyre Emmanuelle, Boucher Renee-Myriam, Skotko Brian G, Waxler Jessica L, Thomas Mary Ann, Hodge Jennelle C, Gecz Jozef, Nicholl Jillian, McGregor Lesley, Linden Tobias, Sisodiya Sanjay M, Sanlaville Damien, Cheung Sau W, Ernst Carl, Campeau Philippe |
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons. Cell death and differentiation 2019 3 26 (11): 2464-2478. Aprile Davide, Fruscione Floriana, Baldassari Simona, Fadda Manuela, Ferrante Daniele, Falace Antonio, Buhler Emmanuelle, Sartorelli Jacopo, Represa Alfonso, Baldelli Pietro, Benfenati Fabio, Zara Federico, Fassio An |
Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study. Cytogenetic and genome research 2022 5 162 (1-2): 1-9. Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pin |
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- Page last updated:Apr 22, 2024
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