Výsledky vyhledávání - Lelli, Daniel
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Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34) Autor Bourque, Pierre R., Warman-Chardon, Jodi, Lelli, Daniel A., LaBerge, Lauren, Kirshen, Carly, Bradshaw, Scott H., Hartley, Taila, Boycott, Kym M.
Vydáno 2018Text -
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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy Autor McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S., Yoon, Grace
Vydáno 2018Text