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Publications by Hanna Mandel

Inborn Errors of RNA Lariat Metabolism in Humans With Brainstem Viral Infection

Molecular Biology

English

Fatal Infantile Mitochondrial Encephalomyopathy, Hypertrophic Cardiomyopathy and Optic Atrophy Associated With a homozygousOPA1mutation

Journal of Medical Genetics

English

Ethanolamine Phosphotransferase 1 (Selenoprotein I) Is Critical for the Neural Development and Maintenance of Plasmalogen in Human

Journal of Lipid Research

English

Anesthetic Management of a Boy With Congenital Disorder of Glycosylation (CDG) I-X

International Journal of Clinical Medicine

English

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

American Journal of Human Genetics

English

Localization of the Gene for Thiamine-Responsive Megaloblastic Anemia Syndrome, on the Long Arm of Chromosome 1, by Homozygosity Mapping

American Journal of Human Genetics

English

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

American Journal of Human Genetics

English

First Trimester Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome(7-Dehydrocholesterol Reductase Deficiency)

Pediatric Research

English