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Publications by Gabriele Gillessen-Kaesbach

RAD21 Mutations Cause a Human Cohesinopathy

American Journal of Human Genetics

English

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

American Journal of Human Genetics

English

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Molecular Biology

Cancer Research

English

Identification of the Recently Described Plasminogen Gene Mutation p.Lys330Glu in a Family From Northern Germany With Hereditary Angioedema

Clinical and Translational Allergy

Respiratory Medicine

English

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

Molecular Syndromology

English

Towards Mapping Phenotypical Traits in 18p− Syndrome by Array-Based Comparative Genomic Hybridisation and Fluorescent in Situ Hybridisation

European Journal of Human Genetics

English

Novel Mutations in BCOR in Three Patients With Oculo-Facio-Cardio-Dental Syndrome, but None in Lenz Microphthalmia Syndrome

European Journal of Human Genetics

English