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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1990 | 1 |
1994 | 1 |
2011 | 1 |
2016 | 1 |
2017 | 1 |
2020 | 2 |
2021 | 1 |
2024 | 0 |
PubMed for id: 349442
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Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree.
Mol Genet Genomic Med. 2020 Dec;8(12):e1518. doi: 10.1002/mgg3.1518. Epub 2020 Oct 1.
Mol Genet Genomic Med. 2020.
PMID: 33002343
Free PMC article.
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.
Alter S, Zimmer AD, Park M, Gong J, Caliebe A, Fölster-Holst R, Torrelo A, Colmenero I, Steinberg SF, Fischer J.
Alter S, et al.
J Med Genet. 2021 Jun;58(6):415-421. doi: 10.1136/jmedgenet-2019-106564. Epub 2020 Aug 17.
J Med Genet. 2021.
PMID: 32817298
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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM.
Kariminejad A, et al.
J Hum Genet. 2017 Apr;62(4):465-471. doi: 10.1038/jhg.2016.151. Epub 2016 Dec 22.
J Hum Genet. 2017.
PMID: 28003643
Free PMC article.
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Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.
Parker L, Mangwani J, Wakeling E, Singh D.
Parker L, et al.
Foot Ankle Surg. 2011 Jun;17(2):e28-30. doi: 10.1016/j.fas.2010.12.003. Epub 2011 Jan 19.
Foot Ankle Surg. 2011.
PMID: 21549968
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Preaxial brachydactyly with abduction of thumbs and hallux varus: a distinct entity.
Sharma AK, Haldar A, Phadke SR, Agarwal SS.
Sharma AK, et al.
Am J Med Genet. 1994 Feb 1;49(3):274-7. doi: 10.1002/ajmg.1320490306.
Am J Med Genet. 1994.
PMID: 8209885
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Hand-foot-genital syndrome: the importance of hallux varus.
Cleveland RH, Holmes LB.
Cleveland RH, et al.
Pediatr Radiol. 1990;20(5):339-43. doi: 10.1007/BF02013170.
Pediatr Radiol. 1990.
PMID: 2349017
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