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Publications by Dirk Schnabel
Heterozygous Inactivating CaSR Mutations Causing Neonatal Hyperparathyroidism: Function, Inheritance and Phenotype
European Journal of Endocrinology
Medicine
Endocrinology
Metabolism
Diabetes
Vitamin D Supplementation After the Second Year of Life: Joint Position of the Committee on Nutrition, German Society for Pediatric and Adolescent Medicine (DGKJ e.V.), and the German Society for Pediatric Endocrinology and Diabetology (DGKED e.V.)
Molecular and Cellular Pediatrics
Child Health
Pediatrics
Perinatology
Molecular Biology
Cell Biology
Related publications
Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy
Acta Ophthalmologica
Medicine
Ophthalmology
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient With Alagille Syndrome
Case Reports in Pediatrics
Fabry Disease: Twenty Novel Α-Galactosidase a Mutations Causing the Classical Phenotype
Journal of Human Genetics
Genetics
Structure and Inheritance of Some Heterozygous Robertsonian Translocation in Man.
Journal of Medical Genetics
Genetics
Neonatal Severe Hyperparathyroidism: A Fatal Case
Journal of Endocrinology and Diabetes
Inactivating BRAF Mutations Modulate RAS–MAPK Signaling
Cancer Discovery
Oncology
Heterozygous Mylk3 Knockout Mice Partially Recapitulate Human DCM With Heterozygous MYLK3 Mutations
Frontiers in Physiology
Physiology
Epigenetics and Inheritance of Phenotype Variation in Livestock
Epigenetics and Chromatin
Genetics
Molecular Biology
GCM2 -Activating Mutations in Familial Isolated Hyperparathyroidism
American Journal of Human Genetics
Genetics
