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Publications by Estelle Chanudet
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
American Journal of Human Genetics
Genetics
Related publications
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
American Journal of Human Genetics
Genetics
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
GPR126 : A Novel Candidate Gene Implicated in Autosomal Recessive Intellectual Disability
American Journal of Medical Genetics, Part A
Genetics
