Hoda Tomoum
AuthID: R-00J-MVM
1
TITLE: A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome
AUTHORS: Shereen G Ghosh; Marcello Scala; Christian Beetz; Guy Helman; Valentina Stanley; Xiaoxu X Yang; Martin W Breuss; Neda Mazaheri; Laila Selim; Fatemeh Hadipour; Lynn Pais; Chloe A Stutterd; Vasiliki Karageorgou; Amber Begtrup; Amy Crunk; Jane Juusola; Rebecca Willaert; Leigh A Flore; Kelly Kennelly; Christopher Spencer; ...More
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
AUTHORS: Shereen G Ghosh; Marcello Scala; Christian Beetz; Guy Helman; Valentina Stanley; Xiaoxu X Yang; Martin W Breuss; Neda Mazaheri; Laila Selim; Fatemeh Hadipour; Lynn Pais; Chloe A Stutterd; Vasiliki Karageorgou; Amber Begtrup; Amy Crunk; Jane Juusola; Rebecca Willaert; Leigh A Flore; Kelly Kennelly; Christopher Spencer; ...More
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: Scopus WOS