Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity

por Lozic, Bernarda, Johansson, Stefan, Lovric Kojundzic, Sanja, Markic, Josko, Knappskog, Per Morten, Hahn, Angelika F., Boman, Helge
Publicado 2016

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

por Melone, Mariarosa A B, Pellegrino, Michael J, Nolano, Maria, Habecker, Beth A, Johansson, Stefan, Nathanson, Neil M, Knappskog, Per M, Hahn, Angelika F, Boman, Helge
Publicado 2014