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Publications by Noriko Fujihara
A C-Terminal Amino Acid Substitution in the Γ-Chain Caused by a Novel Heterozygous Frameshift Mutation (Fibrinogen Matsumoto VII) Results in Hypofibrinogenaemia
Thrombosis and Haemostasis
Hematology
Related publications
A Novel Mutant Protein C (Protein C Sakaiminato) Caused by an Amino Acid Substitution of Ser250 to Asn in a Noonan Syndrome Child
Japanese Journal of Thrombosis and Hemostasis
Recurrent Inflammatory Disease Caused by a Heterozygous Mutation in CD48
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Heterozygous Versus Homozygous Phenotype Caused by the Same Mc4r Mutation: Novel Mutation Affecting a Large Consanguineous Kindred
BMC Medical Genetics
Genetics
Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene
PLoS ONE
Multidisciplinary
A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing
Molecular genetics & genomic medicine
Genetics
Molecular Biology
A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report
Journal of Medical Case Reports
Medicine
Compound Heterozygous Novel Frameshift Variants in the PROM1 Gene Result in Leber Congenital Amaurosis
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
Clinical and Genetic Analysis of ZTTK Syndrome Caused by SON Heterozygous Mutation C.394C>T
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Novel Fibrinogen Bbeta Chain Mutation as an Underlying Mechanism of Afibrinogenemia?
Seminars in Thrombosis and Hemostasis
Cardiovascular Medicine
Hematology
Cardiology
