PMC Links for Nucleotide (Select 1519245155) - PMC

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Items: 5

Select item 54143621.

Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease

Julie Weidner, Linnea Jarenbäck, Kim de Jong, Judith M. Vonk, Maarten van den Berge, Corry-Anke Brandsma, H. Marike Boezen, Don Sin, Yohan Bossé, David Nickle, Jaro Ankerst, Leif Bjermer, Dirkje S. Postma, Alen Faiz, Ellen Tufvesson

Respir Res. 2017; 18: 77. Published online 2017 May 2. doi: 10.1186/s12931-017-0562-5

PMCID:: PMC5414362

Abstract Article PDF–1.1M

Select item 50787862.

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies

Xiaole Wang, Fang He, Fei Yin, Chao Chen, Liwen Wu, Lifen Yang, Jing Peng

Sci Rep. 2016; 6: 35936. Published online 2016 Oct 25. doi: 10.1038/srep35936

PMCID:: PMC5078786

Abstract Article PDF–661K

Select item 49390143.

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

Aisha Al-Shamsi, Jozef L. Hertecant, Abdul-Kader Souid, Fatma A. Al-Jasmi

Orphanet J Rare Dis. 2016; 11: 94. Published online 2016 Jul 8. doi: 10.1186/s13023-016-0474-3

PMCID:: PMC4939014

Abstract Article PDF–477K

Select item 45607624.

Activities of genes controlling sphingolipid metabolism in human fibroblasts treated with flavonoids

Marta Moskot, Joanna Jakóbkiewicz-Banecka, Elwira Smolińska, Bogdan Banecki, Grzegorz Węgrzyn, Magdalena Gabig-Cimińska

Metab Brain Dis. 2015; 30(5): 1257–1267. Published online 2015 Jul 26. doi: 10.1007/s11011-015-9705-x

Correction in:: Metab Brain Dis. 2017; 32(2): 649.

PMCID:: PMC4560762

Abstract Article PDF–710K

Select item 29139445.

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

Inês Sousa, Taane G Clark, Richard Holt, Alistair T Pagnamenta, Erik J Mulder, Ruud B Minderaa, Anthony J Bailey, Agatino Battaglia, Sabine M Klauck, Fritz Poustka, Anthony P Monaco, International Molecular Genetic Study of Autism Consortium (IMGSAC)

Mol Autism. 2010; 1: 7. Published online 2010 Mar 25. doi: 10.1186/2040-2392-1-7