Results 91 to 100 of about 14,262 (208)

Developmental variability in paediatric SGCE‐related myoclonus dystonia syndrome

open access: yes
Developmental Medicine &Child Neurology, Volume 67, Issue 6, Page 695-696, June 2025.
Clément Tarrano, Yulia Worbe
wiley   +1 more source

Examination of Factors Associated with Instability of the FMR1 CGG Repeat [PDF]

open access: bronze, 1998
Allison E. Ashley‐Koch   +7 more
openalex   +1 more source

X inactivation of the FMR1 fragile X mental retardation gene. [PDF]

open access: bronze, 1995
C U Kirchgessner   +2 more
openalex   +1 more source

Normal phenotype in two brothers with a full FMR1 mutation [PDF]

open access: green, 1995
H. J. M. Smeets   +8 more
openalex   +1 more source

Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population [PDF]

open access: bronze, 1996
Pietro Chiurazzi   +5 more
openalex   +1 more source

Allele distribution at the FMR1 locus in the general Chinese population [PDF]

open access: green, 1999
Shu‐Chuan Chiang   +3 more
openalex   +1 more source

FMR1 Reactivating Treatments in Fragile X iPSC-Derived Neural Progenitors In Vitro and In Vivo

open access: yesCell Reports, 2019
Summary: Fragile X syndrome (FXS) is caused primarily by a CGG repeat expansion in the FMR1 gene that triggers its transcriptional silencing. In order to investigate the regulatory layers involved in FMR1 inactivation, we tested a collection of chromatin
Dan Vershkov   +5 more
doaj  

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