A case study of atypical Larsen syndrome with absent hallmark joint dislocations

por Kodra, Neslida, Diamonstein, Callie, Hauser, Natalie S.
Publicado 2019

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

por Kane, Megan S., Diamonstein, Callie J., Hauser, Natalie, Deeken, John F., Niederhuber, John E., Vilboux, Thierry
Publicado 2019