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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2018 | 1 |
2020 | 2 |
2024 | 0 |
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Page 1
Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia.
J Mol Med (Berl). 2017 Dec;95(12):1303-1313. doi: 10.1007/s00109-017-1602-9. Epub 2017 Oct 23.
J Mol Med (Berl). 2017.
PMID: 29063142
Review.
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
Li Z, Zhao S, Cai S, Zhang Y, Wang L, Niu Y, Li X, Hu J, Chen J, Wang S, Wang H, Liu G, Tian Y, Wu Z, Zhang TJ; DISCO (Deciphering Disorders Involving Scoliosis and COmorbidities) study; Wang Y, Wu N.
Li Z, et al.
BMC Musculoskelet Disord. 2020 Apr 11;21(1):220. doi: 10.1186/s12891-020-03229-x.
BMC Musculoskelet Disord. 2020.
PMID: 32278351
Free PMC article.
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A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
Shao J, Zhao S, Yan Z, Wang L, Zhang Y, Lin M, Yu C, Wang S, Niu Y, Li X, Qiu G, Zhang J; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Wu Z, Wu N.
Shao J, et al.
BMC Med Genet. 2020 May 27;21(1):115. doi: 10.1186/s12881-020-01040-y.
BMC Med Genet. 2020.
PMID: 32460719
Free PMC article.
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N.
Liu J, et al.
Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17.
Hum Genet. 2018.
PMID: 30019117
Free PMC article.
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