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Publications by Hanna Mandel
Inborn Errors of RNA Lariat Metabolism in Humans With Brainstem Viral Infection
Cell
Biochemistry
Genetics
Molecular Biology
Fatal Infantile Mitochondrial Encephalomyopathy, Hypertrophic Cardiomyopathy and Optic Atrophy Associated With a homozygousOPA1mutation
Journal of Medical Genetics
Genetics
Ethanolamine Phosphotransferase 1 (Selenoprotein I) Is Critical for the Neural Development and Maintenance of Plasmalogen in Human
Journal of Lipid Research
Biochemistry
Endocrinology
Cell Biology
Anesthetic Management of a Boy With Congenital Disorder of Glycosylation (CDG) I-X
International Journal of Clinical Medicine
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
American Journal of Human Genetics
Genetics
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
Genetics
Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy
American Journal of Human Genetics
Genetics
First Trimester Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome(7-Dehydrocholesterol Reductase Deficiency)
Pediatric Research
Child Health
Pediatrics
Perinatology