Search Results - Kucera, Cathlin

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    Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory

    Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory by Sharma, Rajesh, Kucera, Cathlin R., Nery, Camille R., Lacbawan, Felicitas L., Salazar, Denise, Tanpaiboon, Pranoot

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    A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

    A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms by Wray, Carter D, Friederich, Marisa W, du Sart, Desiree, Pantaleo, Sarah, Smet, Joél, Kucera, Cathlin, Fenton, Laura, Scharer, Gunter, Van Coster, Rudy, Van Hove, Johan L K

    Published in Mitochondrion
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