Discover open access scientific publications

Search, annotate, share and cite publications

Publications by A Kispert

Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations

Respiratory Medicine

English

Single-Step Purification and h.p.l.c. Analysis of Glutathione Transferase 8–8 in Rat Tissues

Biochemical Journal

Molecular Biology

English

Related publications

Novel Genotype-Phenotype and MRI Correlations in a Large Cohort of Patients With SPG7 Mutations

Neurology: Genetics

English

Genotype–phenotype Correlations in Ataxia Telangiectasia Patients With ATM C.3576G>A and C.8147T>C Mutations

Journal of Medical Genetics

English

Genotype-Phenotype Relationship in 12 Patients Carrying Cystic Fibrosis Mutation R334W.

Journal of Medical Genetics

English

TheFBN2gene: New Mutations, Locus-Specific Database (Universal Mutation DatabaseFBN2), and Genotype-Phenotype Correlations

English

Phenotype-Genotype Correlations in X Linked Retinitis Pigmentosa.

Journal of Medical Genetics

English

Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation

English

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients With Idiopathic Dilated Cardiomyopathy

Scientific Reports

Multidisciplinary

English

Fabry Disease: Twenty Novel Α-Galactosidase a Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes

Molecular Medicine

Molecular Medicine

Molecular Biology

English

Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

Multidisciplinary

English