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Publications by Daniela Buhas

HSD10 Mitochondrial Disease: p.Leu122Val Variant, Mild Clinical Phenotype, and Founder Effect in French’Canadian Patients From Quebec

Molecular genetics & genomic medicine

Molecular Biology

English

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LDL Phenotype in Subjects With Mild Cognitive Impairment and Alzheimer's Disease

Journal of Alzheimer's Disease

Clinical Psychology

English

The Arg1038Gly Missense Variant in the NF1 Gene Causes a Mild Phenotype Without Neurofibromas

Molecular genetics & genomic medicine

Molecular Biology

English

Effect of TTP488 in Patients With Mild to Moderate Alzheimer’s Disease

English

Clinical Presentation and Natural History of Infantile-Onset Ascending Spastic Paralysis From Three Families With an ALS2 Founder Variant

Neurological Sciences

English

De Novo VHL Germline Mutation Detected in a Patient With Mild Clinical Phenotype of Von Hippel-Lindau Disease

Journal of Neurosurgery

English

Intake of Copper Has No Effect on Cognition in Patients With Mild Alzheimer’s Disease: A Pilot Phase 2 Clinical Trial

Journal of Neural Transmission

Biological Psychiatry

English

Metabolic Progression to Clinical Phenotype in Classic Fabry Disease

Italian Journal of Pediatrics

English

Treatment of Mild Hyperhomocysteinemia in Vascular Disease Patients

Arteriosclerosis and Thrombosis: A Journal of Vascular Biology

English

Correction: A Homozygous KAT2B Variant Modulates the Clinical Phenotype of ADD3 Deficiency in Humans and Flies

Molecular Biology

Cancer Research

English