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Year | Number of Results |
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1995 | 1 |
1997 | 2 |
2018 | 1 |
2022 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 7109
5 results
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Page 1
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
PLoS Genet. 2022 Mar 17;18(3):e1010114. doi: 10.1371/journal.pgen.1010114. eCollection 2022 Mar.
PLoS Genet. 2022.
PMID: 35298461
Free PMC article.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM.
Santos-Cortez RLP, et al.
Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22.
Hum Genet. 2018.
PMID: 30167849
Free PMC article.
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Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.
Lafrenière RG, Kibar Z, Rochefort DL, Han FY, Fon EA, Dubé MP, Kang X, Baird S, Korneluk RG, Rommens JM, Rouleau GA.
Lafrenière RG, et al.
Gene. 1997 Oct 1;198(1-2):313-21. doi: 10.1016/s0378-1119(97)00333-8.
Gene. 1997.
PMID: 9370297
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Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3.
Nagamine K, Kudoh J, Kawasaki K, Minoshima S, Asakawa S, Ito F, Shimizu N.
Nagamine K, et al.
Biochem Biophys Res Commun. 1997 Jun 9;235(1):185-90. doi: 10.1006/bbrc.1997.6758.
Biochem Biophys Res Commun. 1997.
PMID: 9196060
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Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.
Yamakawa K, Mitchell S, Hubert R, Chen XN, Colbern S, Huo YK, Gadomski C, Kim UJ, Korenberg JR.
Yamakawa K, et al.
Hum Mol Genet. 1995 Apr;4(4):709-16. doi: 10.1093/hmg/4.4.709.
Hum Mol Genet. 1995.
PMID: 7633421
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