Found: 14
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Association of the Serum and Glucocorticoid Regulated Kinase (sgk1) Gene with QT Interval.
- Published in:
- Cellular Physiology & Biochemistry (Karger AG), 2004, v. 14, n. 3, p. 135, doi. 10.1159/000078105
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- Publication type:
- Article
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B<sub>12</sub> metabolism.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 234, doi. 10.1038/ng.294
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- Publication type:
- Article
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1113, doi. 10.1038/ng.204
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- Publication type:
- Article
Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.
- Published in:
- Carcinogenesis, 2012, v. 33, n. 8, p. 1548, doi. 10.1093/carcin/bgs218
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- Publication type:
- Article
A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 486, doi. 10.1111/cge.14028
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- Publication type:
- Article
An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
- Published in:
- Annals of Human Genetics, 2021, v. 85, n. 5, p. 186, doi. 10.1111/ahg.12437
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- Publication type:
- Article
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
- Published in:
- 2019
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- Publication type:
- journal article
Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-79804-y
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- Publication type:
- Article
Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren’s Disease.
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158101
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- Publication type:
- Article
Leukocyte transcriptional signatures dependent on LPS dosage in human endotoxemia.
- Published in:
- Journal of Leukocyte Biology, 2019, v. 106, n. 5, p. 1153, doi. 10.1002/JLB.4A0219-050R
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- Publication type:
- Article
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 10, p. 993, doi. 10.1093/hmg/ddh119
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- Publication type:
- Article
Rare gene deletions in genetic generalized and Rolandic epilepsies.
- Published in:
- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0202022
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- Publication type:
- Article
Gene polymorphisms in prodynorphin ( PDYN) are associated with episodic memory in the elderly.
- Published in:
- Journal of Neural Transmission, 2009, v. 116, n. 7, p. 897, doi. 10.1007/s00702-009-0238-5
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- Publication type:
- Article
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
- Published in:
- Movement Disorders, 2009, v. 24, n. 3, p. 429, doi. 10.1002/mds.22399
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- Publication type:
- Article