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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 |
2019 | 1 |
2020 | 1 |
2021 | 1 |
2022 | 2 |
2023 | 1 |
2024 | 0 |
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Page 1
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation.
Hum Genet. 2023 Jan;142(1):89-101. doi: 10.1007/s00439-022-02474-5. Epub 2022 Sep 13.
Hum Genet. 2023.
PMID: 36098810
The identification of PAX7 variants and a potential role of muscle development dysfunction in congenital scoliosis.
Wang M, Li Z, Zhao S, Zheng Z, Wang Y, Qiu G, Wu Z, Wu N, Zhang TJ, Cai S.
Wang M, et al.
Cell Regen. 2022 May 2;11(1):16. doi: 10.1186/s13619-022-00116-9.
Cell Regen. 2022.
PMID: 35499749
Free PMC article.
No abstract available.
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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B.
Okur V, et al.
NPJ Genom Med. 2021 Dec 7;6(1):104. doi: 10.1038/s41525-021-00268-8.
NPJ Genom Med. 2021.
PMID: 34876591
Free PMC article.
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A retrospective study of bone scintigraphy in the follow-up of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: is it useful to repeat bone scintigraphy for disease assessment?
Li C, Wang L, Wu N, Cao Y, Sun X, Zhang W, Jing H.
Li C, et al.
Clin Rheumatol. 2020 Apr;39(4):1305-1314. doi: 10.1007/s10067-019-04864-z. Epub 2019 Dec 19.
Clin Rheumatol. 2020.
PMID: 31858336
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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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Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia.
Chen J, Liu J, Zhou Y, Liu S, Liu G, Zuo Y, Wu Z, Wu N, Qiu G.
Chen J, et al.
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.
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