Showing 1–8 of 8 results
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Research | | Open
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Research |
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
- Shereen G. Ghosh
- , Marcello Scala
- , Christian Beetz
- , Guy Helman
- , Valentina Stanley
- , Xiaoxu 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
- , S. Lane 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
- , Patrícia Dias
- , Sofia Quintas
- , Atiyeh Eslahi
- , Gholamreza Shariati
- , Peter Bauer
- , Cas Simons
- , Henry Houlden
- , Mahmoud Y. Issa
- , Maha S. Zaki
- , Reza Maroofian
- & Joseph G. Gleeson
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Amendments and Corrections | | Open
Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort
- ...now reads: Qingping Zhang, Xiaoxu Yang, Jiaping Wang, and Jiarui...
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Research | | Open
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Research |
Autism risk in offspring can be assessed through quantification of male sperm mosaicism
- Martin W. Breuss
- , Danny Antaki
- , Renee D. George
- , Morgan Kleiber
- , Kiely N. James
- , Laurel L. Ball
- , Oanh Hong
- , Ileena Mitra
- , Xiaoxu Yang
- , Sara A. Wirth
- , Jing Gu
- , Camila A. B. Garcia
- , Madhusudan Gujral
- , William M. Brandler
- , Damir Musaev
- , An Nguyen
- , Jennifer McEvoy-Venneri
- , Renatta Knox
- , Evan Sticca
- , Martha Cristina Cancino Botello
- , Javiera Uribe Fenner
- , Maria Cárcel Pérez
- , Maria Arranz
- , Andrea B. Moffitt
- , Zihua Wang
- , Amaia Hervás
- , Orrin Devinsky
- , Melissa Gymrek
- , Jonathan Sebat
- & Joseph G. Gleeson
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Research | | Open
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Research | | Open
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Research | | Open
