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Publications by Uwe Kornak

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

RANK-dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations

Journal of Bone and Mineral Research

Sports Medicine

English

Missense Variant in CCDC22 Causes X-Linked Recessive Intellectual Disability With Features of Ritscher-Schinzel/3c Syndrome

European Journal of Human Genetics

English

GOPHER: Generator of Probes for Capture Hi-C Experiments at High Resolution

English

Severe Congenital Cutis Laxa With Cardiovascular Manifestations Due to Homozygous Deletions in ALDH18A1

Molecular Genetics and Metabolism

Molecular Biology

English

Monogene Frühmanifeste Osteoporose Und Altersosteoporose – Ein Kontinuum

Medizinische Genetik

English

Modelling Neurofibromatosis Type 1 Tibial Dysplasia and Its Treatment With Lovastatin

English