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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2016 | 2 |
2017 | 1 |
2019 | 1 |
2024 | 0 |
PubMed for id: 351216
4 results
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Page 1
Clinical and molecular spectrum of CHOPS syndrome.
Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6.
Am J Med Genet A. 2019.
PMID: 31058441
Free PMC article.
Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle.
Hirota Y, Minami T, Sato T, Yokomizo A, Matsumoto A, Goto M, Jinbo E, Yamamgata T.
Hirota Y, et al.
Am J Med Genet A. 2017 Sep;173(9):2446-2450. doi: 10.1002/ajmg.a.38297. Epub 2017 Jun 21.
Am J Med Genet A. 2017.
PMID: 28636109
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Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.
Petrovski S, Parrott RE, Roberts JL, Huang H, Yang J, Gorentla B, Mousallem T, Wang E, Armstrong M, McHale D, MacIver NJ, Goldstein DB, Zhong XP, Buckley RH.
Petrovski S, et al.
J Clin Immunol. 2016 Jul;36(5):462-71. doi: 10.1007/s10875-016-0281-6. Epub 2016 Apr 13.
J Clin Immunol. 2016.
PMID: 27076228
Free PMC article.
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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C.
Thevenon J, et al.
Clin Genet. 2016 Dec;90(6):509-517. doi: 10.1111/cge.12785. Epub 2016 Apr 29.
Clin Genet. 2016.
PMID: 27060890
Free PMC article.
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