Molecular Genetics & Genomic Medicine - Číslo Early View/2015
Original Research
1
Fam83h null mice support a neomorphic mechanism for human ADHCAI
Shih-Kai Wang, Yuanyuan Hu, Jie Yang, Charles E. Smith, Amelia S Richardson, Yasuo Yamakoshi, Yuan-Ling Lee, Figen Seymen, Mine Koruyucu, Koray Gencay, Moses Lee, Murim Choi, Jung-Wook Kim, Jan C-C. Hu, James P. Simmer
Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group
Murray Logan, Maria-Teresa Van Der Merwe, Tyren M. Dodgen, Renier Myburgh, Arinda Eloff, Marco Alessandrini, Michael S. Pepper
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Josephine Wincent, Aron Luthman, Martine Van Belzen, Christian Van Der Lans, Johanna Albert, Ann Nordgren, †, Britt-Marie Anderlid, †
Molecular Genetics & Genomic Medicine
2015 Číslo Early View
Nejčtenější v tomto čísle
- Fam83h null mice support a neomorphic mechanism for human ADHCAI
- Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group
- CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome