Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2

Por Slachtova, Lenka, Seda, Ondrej, Behunova, Jana, Mistrik, Martin, Martasek, Pavel
Publicado no Eur J Hum Genet (2016)

Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2

Por Slachtova, Lenka, Seda, Ondrej, Behunova, Jana, Mistrik, Martin, Martasek, Pavel
Publicado no Eur J Hum Genet (2016)

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Por Kim, Jung-Hyun, Shinde, Deepali N., Reijnders, Margot R.F., Hauser, Natalie S., Belmonte, Rebecca L., Wilson, Gregory R., Bosch, Daniëlle G.M., Bubulya, Paula A., Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K., Park, Eun Young, Veltman, Joris A., Sinnema, Margje, Stumpel, Connie T.R.M., Draaisma, Jos M., Nicolai, Joost, Yntema, Helger G., Lindstrom, Kristin, de Vries, Bert B.A., Jewett, Tamison, Santoro, Stephanie L., Vogt, Julie, Bachman, Kristine K., Seeley, Andrea H., Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M., Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A., Behunova, Jana, Rehder, Helga, Gordon, Christopher T., Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T., McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander P.A., Stevens, Servi J.C., Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G., Brunner, Han G., Mancini, Grazia M., Myers, Richard M., Owen, Laurie B., Lim, Ssang-Taek, Stachura, David L., Vissers, Lisenka E.L.M., Ahn, Eun-Young Erin
Publicado no Am J Hum Genet (2016)