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Publications by Marianne Rohrbach
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , Which Encode Subcomponents C1r and C1s of Complement
American Journal of Human Genetics
Genetics
Expanding the Clinical and Mutational Spectrum of the Ehlers–Danlos Syndrome, Dermatosparaxis Type
Genetics in Medicine
Medicine
Genetics
Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta
Human Mutation
Genetics
Postprandial Changes of Amino Acid and Acylcarnitine Concentrations in Dried Blood Samples
Journal of Inherited Metabolic Disease
Genetics
The Novel Missense Mutation Met48Lys in FKBP22 Changes Its Structure and Functions
Scientific Reports
Multidisciplinary
Brittle Cornea Syndrome: Recognition, Molecular Diagnosis and Management
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Marfan Syndrome and Related Connective Tissue Disorders in the Current Era in Switzerland in 103 Patients: Medical and Surgical Management and Impact of Genetic Testing
Swiss Medical Weekly
Medicine
Extent, Impact, and Predictors of Diagnostic Delay in Pompe Disease: A Combined Survey Approach to Unveil the Diagnostic Odyssey
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
