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List of works by Daniel H Cohn

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

scientific article published on 18 November 2018

Dominant-negative SOX9 mutations in campomelic dysplasia

scientific article published on 26 August 2019

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

scientific article published on 25 October 2017

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.

scientific article published on 20 December 2017

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

scientific article

Nosology and classification of genetic skeletal disorders: 2019 revision

scientific article published on 21 October 2019

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

scientific article published on 01 September 2018

The α2 chain of type IX collagen is essential for type IX collagen biosynthesis

scientific article published on 03 June 2019

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