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Publications by Brent L. Fogel

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics
Genetics
2019English

IRF2BPL Is Associated With Neurological Phenotypes

American Journal of Human Genetics
Genetics
2018English

De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

American Journal of Human Genetics
Genetics
2019English

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics
Genetics
2019English

Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings

Annals of Neurology
Neurology
2012English

C9ORF72expansion Is Not a Significant Cause of Sporadic Spinocerebellar Ataxia

Movement Disorders
Neurology
2012English

Mutation of Senataxin Alters Disease-Specific Transcriptional Networks in Patients With Ataxia With Oculomotor Apraxia Type 2

Human Molecular Genetics
MedicineGeneticsMolecular Biology
2014English

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