Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Christel Thauvin-Robinet
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3
Cell Stem Cell
Molecular Medicine
Genetics
Cell Biology
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
HNRNPR Variants That Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
American Journal of Human Genetics
Genetics
Heterozygous Deletion of the LRFN2 Gene Is Associated With Working Memory Deficits
European Journal of Human Genetics
Genetics
SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia
Archives of Neurology
