Found: 13
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FGF12 copy number variant associated with epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 114, doi. 10.1111/cge.14542
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- Publication type:
- Article
Improved methods for RNAseq-based alternative splicing analysis.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89938-2
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- Publication type:
- Article
Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17105-8
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- Article
Do Genomic Factors Play a Role in Diabetic Retinopathy?
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 216, doi. 10.3390/jcm9010216
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- Publication type:
- Article
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
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- Publication type:
- Article
Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 2, p. 183, doi. 10.1111/cge.13580
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- Article
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1549, doi. 10.1002/ajmg.a.38712
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- Publication type:
- Article
Chemokine Mediated Monocyte Trafficking into the Retina: Role of Inflammation in Alteration of the Blood-Retinal Barrier in Diabetic Retinopathy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0108508
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- Article
Common Variants of Homocysteine Metabolism Pathway Genes and Risk of Type 2 Diabetes and Related Traits in Indians.
- Published in:
- Experimental Diabetes Research, 2012, p. 1, doi. 10.1155/2012/960318
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- Article
Diabetic Retinopathy and Inflammation: Novel Therapeutic Targets.
- Published in:
- Middle East African Journal of Ophthalmology, 2012, v. 19, n. 1, p. 52, doi. 10.4103/0974-9233.92116
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- Publication type:
- Article
Association of Leukocyte Count With Varying Degrees of Glucose Intolerance in Asian Indians: The Chennai Urban Rural Epidemiology Study (CURES-26).
- Published in:
- Metabolic Syndrome & Related Disorders, 2009, v. 7, n. 3, p. 205
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- Publication type:
- Article
A Common Nonsynonymous Single Nucleotide Polymorphism in the SLC30A8 Gene Determines ZnT8 Autoantibody Specificity in Type 1 Diabetes.
- Published in:
- Diabetes, 2008, v. 57, n. 10, p. 2693, doi. 10.2337/db08-0522
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- Publication type:
- Article
Augmentation of GFAT (Glutamine Fructose-6-Phosphate Amidotransferase) Activity and Oxidative Stress in Clinical Diabetes.
- Published in:
- Diabetes, 2007, v. 56, p. A155
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- Publication type:
- Article