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Publications by Gudrun E. Moore

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics
Genetics
2015English

Maternal Inheritance of a Promoter Variant in the Imprinted PHLDA2 Gene Significantly Increases Birth Weight

American Journal of Human Genetics
Genetics
2012English

Related publications

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics
Genetics
2012English

Adult-Onset Autosomal Recessive Cerebellar Ataxia

2020English

Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

2020English

Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency

2020English

Non-Progressive Cerebellar Ataxia With Intellectual Disability

2020English

Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency

2020English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics
Genetics
2011English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics
Genetics
2010English

GPR126 : A Novel Candidate Gene Implicated in Autosomal Recessive Intellectual Disability

American Journal of Medical Genetics, Part A
Genetics
2018English

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