Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Cynthia J. Tifft
Publisher Correction: Lysosomal Storage Diseases
Nature Reviews Disease Primers
Medicine
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
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model
Molecular Therapy
Molecular Medicine
Molecular Biology
Pharmacology
Medicine
Genetics
Drug Discovery
Cover Image, Volume 38, Issue 10
Human Mutation
Genetics
Cerebral Organoids Derived From Sandhoff Disease Induced Pluripotent Stem Cells Exhibit Impaired Neurodifferentiation
Journal of Lipid Research
Biochemistry
Endocrinology
Cell Biology
