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Publications by A. Moerman

Unreported RSK2 Missense Mutation in Two Male Sibs With an Unusually Mild Form of Coffin-Lowry Syndrome

Journal of Medical Genetics

English

Related publications

Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome

English

Mutation Analysis of the RSK2 Gene in Coffin-Lowry Patients: Extensive Allelic Heterogeneity and a High Rate of De Novo Mutations

American Journal of Human Genetics

English

X-Linked Coffin-Lowry Syndrome (CLS, MIM 303600, RPS6KA3 Gene, Protein Product Known Under Various Names: Pp90rsk2, RSK2, ISPK, MAPKAP1)

European Journal of Human Genetics

English

Síndrome De Coffin-Lowry

Universitas Médica

English

Enhanced Accumulation of Hyaluronate in the Culture of Skin Fibroblasts From Two Patients With Coffin-Lowry Syndrome.

Tohoku Journal of Experimental Medicine

Molecular Biology

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Association of a Homozygous GCK Missense Mutation With Mild Diabetes

Molecular genetics & genomic medicine

Molecular Biology

English

An Unusually Low Microsatellite Mutation Rate in Dictyostelium Discoideum, an Organism With Unusually Abundant Microsatellites

English

The De Novo Missense Mutation N117S in Skeletal Muscle Α‑actinï¿½1 Causes a Mild Form of Congenital Nemaline Myopathy

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

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A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation

Molecular Biology

English