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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2003 | 1 |
2014 | 1 |
2018 | 1 |
2019 | 2 |
2024 | 0 |
PubMed (cited) for id: 611623
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Page 1
Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration.
Genes (Basel). 2019 May 21;10(5):385. doi: 10.3390/genes10050385.
Genes (Basel). 2019.
PMID: 31117272
Free PMC article.
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.
Mizuguchi T, Nakashima M, Moey LH, Ch'ng GS, Khoo TB, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Saitsu H, Matsumoto N.
Mizuguchi T, et al.
J Hum Genet. 2019 Apr;64(4):347-350. doi: 10.1038/s10038-018-0556-2. Epub 2019 Jan 9.
J Hum Genet. 2019.
PMID: 30626896
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Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy.
Alsahli S, Al-Twaijri W, Al Mutairi F.
Alsahli S, et al.
Epilepsia Open. 2018 Nov 12;3(4):524-527. doi: 10.1002/epi4.12263. eCollection 2018 Dec.
Epilepsia Open. 2018.
PMID: 30525121
Free PMC article.
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NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
Alazami AM, Hijazi H, Kentab AY, Alkuraya FS.
Alazami AM, et al.
J Med Genet. 2014 Apr;51(4):224-8. doi: 10.1136/jmedgenet-2013-102030. Epub 2014 Jan 7.
J Med Genet. 2014.
PMID: 24399846
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Identification of a family of endocytic proteins that define a new alpha-adaptin ear-binding motif.
Ritter B, Philie J, Girard M, Tung EC, Blondeau F, McPherson PS.
Ritter B, et al.
EMBO Rep. 2003 Nov;4(11):1089-95. doi: 10.1038/sj.embor.embor7400004. Epub 2003 Oct 10.
EMBO Rep. 2003.
PMID: 14555962
Free PMC article.
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