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Publications by Sandra Scheel

Heterozygous Inactivating CaSR Mutations Causing Neonatal Hyperparathyroidism: Function, Inheritance and Phenotype

European Journal of Endocrinology

English

Related publications

Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy

Acta Ophthalmologica

English

Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient With Alagille Syndrome

Case Reports in Pediatrics

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Fabry Disease: Twenty Novel Α-Galactosidase a Mutations Causing the Classical Phenotype

Journal of Human Genetics

English

Structure and Inheritance of Some Heterozygous Robertsonian Translocation in Man.

Journal of Medical Genetics

English

Neonatal Severe Hyperparathyroidism: A Fatal Case

Journal of Endocrinology and Diabetes

English

Inactivating BRAF Mutations Modulate RAS–MAPK Signaling

Cancer Discovery

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Heterozygous Mylk3 Knockout Mice Partially Recapitulate Human DCM With Heterozygous MYLK3 Mutations

Frontiers in Physiology

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Epigenetics and Inheritance of Phenotype Variation in Livestock

Epigenetics and Chromatin

Molecular Biology

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GCM2 -Activating Mutations in Familial Isolated Hyperparathyroidism

American Journal of Human Genetics

English