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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2009 3
2010 2
2011 2
2012 3
2013 1
2014 2
2015 4
2016 1
2017 1
2018 1
2019 1
2020 2
2021 2
2022 3
2024 3

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Page 1
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Dubail J, Rondeau S, Michot C, Baujat G, Capri Y, Thévenon J, Charpie M, Pejin Z, Phan G, Huber C, Cormier-Daire V. Dubail J, et al. Among authors: phan g. J Bone Miner Res. 2024 Apr 19;39(3):287-297. doi: 10.1093/jbmr/zjad020. J Bone Miner Res. 2024. PMID: 38477767
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V. Marzin P, et al. Among authors: phan g. Genet Med. 2021 Feb;23(2):331-340. doi: 10.1038/s41436-020-00994-x. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082559 Free article.
31 results