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Publications by Martijn H. Breuning

Response to Dalal Et Al.

Genetics in Medicine

English

Keratosis Follicularis Spinulosa Decalvans Is Caused by Mutations in MBTPS2

English

Copy Number Variants in Short Children Born Small for Gestational Age

Hormone Research in Paediatrics

English

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

American Journal of Human Genetics

English

Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization

American Journal of Human Genetics

English

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

American Journal of Human Genetics

English

Spectrum of Mutations in the Batten Disease Gene, CLN3

American Journal of Human Genetics

English

Aberrant Polycystin-1 Expression Results in Modification of Activator Protein-1 Activity, Whereas WNT Signaling Remains Unaffected

Journal of Biological Chemistry

Molecular Biology

English