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Publications by Friederike Koerber
A Mutation in the 5′-Utr of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type v With Hyperplastic Callus
American Journal of Human Genetics
Genetics
Related publications
Autosomal Dominant Amelogenesis Imperfecta Associated withENAMframeshift Mutation p.Asn36Ilefs56
Clinical Genetics
Genetics
Mutation in Kallikrein 4 Causes Autosomal Recessive Hypomaturation Amelogenesis Imperfecta
Journal of Medical Genetics
Genetics
Osteogenesis Imperfecta Type IIA: Evidence for Dominant Inheritance.
Journal of Medical Genetics
Genetics
Identification of a Mutation Causing Deficient BMP1/mTLD Proteolytic Activity in Autosomal Recessive Osteogenesis Imperfecta
Human Mutation
Genetics
A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
An Autosomal Dominant Mutation in Calsequestrin 2 Causes CPVT Without Changing Protein Levels
Biophysical Journal
Biophysics
A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy
American Journal of Human Genetics
Genetics
Enamelin and Autosomal-Dominant Amelogenesis Imperfecta
Critical Reviews in Oral Biology & Medicine
a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family
G3: Genes, Genomes, Genetics
Medicine
Genetics
Molecular Biology
