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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

Whole-genome sequencing of patients with rare diseases in a national health system.

Journal article

Turro E. et al, (2020), Nature, 583, 96 - 102

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

Journal article

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

ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Journal article

Babbs C. et al, (2020), J Med Genet, 57, 414 - 421

amplimap: a versatile tool to process and analyze targeted NGS data.

Journal article

Koelling N. et al, (2020), Bioinformatics

amplimap: a versatile tool to process and analyze targeted NGS data.

Journal article

Koelling N. et al, (2019), Bioinformatics, 35, 5349 - 5350

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

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