Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene by Jacobs, Elizabeth H., Schatzman Raposo, Jacquelyn, Scardamaglia, Annarita, Alkuraya, Fowzan S., Nafissi, Shahriar, Houlden, Henry, Zuchner, Stephan, Saporta, Mario A.

Get full text

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy by Yanick, Christopher, Maciel, Renata, Jacobs, Elizabeth, Schatzman, Jacquelyn, Shy, Michael, Zuchner, Stephan, Saporta, Mario

Get full text

The GENESIS database and tools: A decade of discovery in Mendelian genomics by Danzi, Matt C., Powell, Eric, Rebelo, Adriana P., Dohrn, Maike F., Beijer, Danique, Fazal, Sarah, Xu, Isaac R.L., Medina, Jessica, Chen, Sitong, Arcia de Jesus, Yeisha, Schatzman, Jacquelyn, Hershberger, Ray E., Saporta, Mario, Baets, Jonathan, Falk, Marni, Herrmann, David N., Scherer, Steven S., Reilly, Mary M., Cortese, Andrea, Marques, Wilson, Cornejo-Olivas, Mario R., Sanmaneechai, Oranee, Kennerson, Marina L., Jordanova, Albena, Silva, Thiago Y.T., Pedroso, Jose Luiz, Schierbaum, Luca, Ebrahimi-Fakhari, Darius, Peric, Stojan, Lee, Yi-Chung, Synofzik, Matthis, Tekin, Mustafa, Ravenscroft, Gianina, Shy, Mike, Basak, Nazli, Schule, Rebecca, Zuchner, Stephan

Get full text