Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Irene Stolte-Dijkstra

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

American Journal of Human Genetics

English

SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects

Nature Communications

Molecular Biology

English

Related publications

Autosomal Dominant Cutis Laxa

English

Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families With Cutis Laxa Type 2

American Journal of Human Genetics

English

Autosomal Recessive Cutis Laxa Type 2B

English

Congenital Cutis Laxa With a Dominant Inheritance and Early Onset Emphysema.

Respiratory Medicine

English

Mutations in SEC63 Cause Autosomal Dominant Polycystic Liver Disease

Nature Genetics

English

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

American Journal of Human Genetics

English

Pyrroline-5-Carboxylate Reductase in Human Erythrocytes.

Journal of Clinical Investigation

English

Pyrroline-5-Carboxylate Reductase 1 (PYCR1)

Science-Business eXchange

English

Cutis Laxa: A Feature of Costello Syndrome.

Journal of Medical Genetics

English