Anna C. E. Hurst


AuthID: R-00J-MVH

Publications Requiring Validation

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; Martha Brown; Pamela Trapane; Anna C E Hurst; Lane L Rutledge; Dana H Goodloe; Marie T McDonald; Vandana Shashi; Kelly Schoch; Hoda Tomoum; Raghda Zaitoun; Zahra Hadipour; Hamid Galehdari; Alistair T Pagnamenta; Majid Mojarrad; Alireza Sedaghat; Patricia Dias; Sofia Quintas; Atiyeh Eslahi; Gholamreza Shariati; Peter Bauer; Cas Simons; Henry Houlden; Mahmoud Y Issa; Maha S Zaki; Reza Maroofian; Joseph G Gleeson; ...More
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: Scopus WOS

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