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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2007 | 1 |
2018 | 2 |
2019 | 1 |
2024 | 0 |
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Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene.
Ophthalmic Genet. 2019 Feb;40(1):77-79. doi: 10.1080/13816810.2018.1551495. Epub 2018 Nov 29.
Ophthalmic Genet. 2019.
PMID: 30488743
No abstract available.
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.
Waldman M, Han JC, Reyes-Capo DP, Bryant J, Carson KA, Turkbey B, Choyke P, Naggert JK, Gahl WA, Marshall JD, Gunay-Aygun M.
Waldman M, et al.
Mol Genet Metab. 2018 Sep;125(1-2):181-191. doi: 10.1016/j.ymgme.2018.07.010. Epub 2018 Jul 24.
Mol Genet Metab. 2018.
PMID: 30064963
Free PMC article.
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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK.
Marshall JD, et al.
Hum Mutat. 2007 Nov;28(11):1114-23. doi: 10.1002/humu.20577.
Hum Mutat. 2007.
PMID: 17594715
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