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The developing mouse coronal suture at single-cell resolution.

Journal article

Farmer DT. et al, (2021), Nat Commun, 12

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Journal article

Calpena E. et al, (2021), Hum Mutat

The developing mouse coronal suture at single-cell resolution

Journal article

Farmer D. et al, (2021)

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal article

Calpena E. et al, (2020), Genet Med, 22

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal article

Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse.

Journal article

Schwerd T. et al, (2020), Bone Res, 8

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

Journal article

TWIGG S. et al, (2020), Bone Research

BMP2 or not BMP2? A SMAD6-related question in craniosynostosis

Conference paper

Calpena E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1277 - 1278

Recurrent mosaic SMO mutation in two patients confirms Happle-Tinschert Syndrome as a variant of Curry-Jones Syndrome

Journal article

TWIGG STEPHEN. et al, (2019), British Journal of Dermatology

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Journal article

Glass GE. et al, (2019), Am J Med Genet A, 179, 615 - 627

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1.

Journal article

Romanelli Tavares VL. et al, (2019), Mol Syndromol, 10, 40 - 47

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Journal article

Zhou Y. et al, (2018), Hum Mutat, 39, 1360 - 1365

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