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Publications by Fabiana Ramos
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
American Journal of Human Genetics
Genetics
Interstitial 287 Kb Deletion of 4p16.3 Including FGFRL1 Gene Associated With Language Impairment and Overgrowth
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
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
