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Publications by Klaus Schmitz-Abe
A Novel Rat Model of Hereditary Hemochromatosis Due to a Mutation in Transferrin Receptor 2
Blood
Biochemistry
Immunology
Cell Biology
Hematology
De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Related publications
Interaction of the Hereditary Hemochromatosis Protein HFE With Transferrin Receptor 2 Is Required for Transferrin-Induced Hepcidin Expression
Cell Metabolism
Cell Biology
Molecular Biology
Physiology
Hereditary Hemochromatosis
Annual Review of Nutrition
Medicine
Nutrition
Dietetics
Isolated Growth Hormone Deficiency Type 2 Due to a Novel GH1 Mutation: A Case Report
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation
Journal of Bone and Mineral Research
Endocrinology
Orthopedics
Sports Medicine
Metabolism
Diabetes
A Novel Mutation in CELSR1 Is Associated With Hereditary Lymphedema
Vascular Cell
Computer Networks
Developmental Neuroscience
Neurology
Cell Biology
Communications
A Novel Homozygous Mutation in the WNK1/HSN2 Gene Causing Hereditary Sensory Neuropathy Type 2.
Acta Biochimica Polonica
Biochemistry
Genetics
Molecular Biology
Mutation Analysis of Four Chinese Families With Pure Hereditary Spastic Paraplegia: Pseudo- X-Linked Dominant Inheritance and Male Lethality Due to a Novel ATL1 Mutation
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
Novel EXT1 Mutation Identified in a Pedigree With Hereditary Multiple Exostoses
Oncology Reports
Medicine
Cancer Research
Oncology
Juvenile Onset Autoinflammatory Disease Due to a Novel Mutation in TNFAIP3 (A20)
Arthritis Research & Therapy
