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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2013 | 1 |
2017 | 1 |
2018 | 1 |
2020 | 1 |
2021 | 1 |
2024 | 0 |
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Page 1
Splicing in action: assessing disease causing sequence changes.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V.
Baujat G, et al.
J Med Genet. 2013 Feb;50(2):91-8. doi: 10.1136/jmedgenet-2012-101282.
J Med Genet. 2013.
PMID: 23339108
Item in Clipboard
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E.
Vig A, et al.
Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5.
Genet Med. 2020.
PMID: 32753734
Free PMC article.
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DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.
Lee J, Lee H, Lee YM, Kuht HJ, Thomas MG, Kim SJ, Lee ST, Han J.
Lee J, et al.
Clin Genet. 2021 Jul;100(1):111-113. doi: 10.1111/cge.13958. Epub 2021 Mar 23.
Clin Genet. 2021.
PMID: 33755199
No abstract available.
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Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH.
Zhang W, et al.
Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.
Hum Mutat. 2018.
PMID: 29068549
Free PMC article.
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