A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada

por Theodore-Oklota, Christina, Hartman, Deborah S., Hoffman, Deborah L., Björnsson, Hans T.
Publicado 2021

Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome

por Theodore‐Oklota, Christina, Egan, Shayna, Paulich, Maggie, Evans, Christopher J., Hartman, Deborah S., Hoffman, Deborah L., Björnsson, Hans T.
Publicado 2020

From Genotype to Phenotype—A Review of Kabuki Syndrome †

por Barry, Kelly K., Tsaparlis, Michaelangelo, Hoffman, Deborah, Hartman, Deborah, Adam, Margaret P., Hung, Christina, Bodamer, Olaf A.
Publicado 2022

Safety, pharmacokinetics and pharmacodynamics of TAK‐418, a novel inhibitor of the epigenetic modulator lysine‐specific demethylase 1A

por Yin, Wei, Arkilo, Dimitrios, Khudyakov, Polyna, Hazel, Jim, Gupta, Saurabh, Quinton, Maria S., Lin, Jie, Hartman, Deborah S., Bednar, Martin M., Rosen, Laura, Wendland, Jens R.
Publicado 2021

Orexin 2 receptor–selective agonist danavorexton improves narcolepsy phenotype in a mouse model and in human patients

por Evans, Rebecca, Kimura, Haruhide, Alexander, Robert, Davies, Ceri H., Faessel, Hélène, Hartman, Deborah S., Ishikawa, Takashi, Ratti, Emiliangelo, Shimizu, Kohei, Suzuki, Motohisa, Tanaka, Shinichiro, Yukitake, Hiroshi, Dauvilliers, Yves, Mignot, Emmanuel
Publicado 2022