Found: 11
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Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.
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- Journal of Genetics, 2018, v. 97, n. 2, p. 555, doi. 10.1007/s12041-018-0925-9
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- Article
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.
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- Journal of Genetics, 2015, v. 94, n. 4, p. 749, doi. 10.1007/s12041-015-0564-3
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- Article
ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.
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- Cellular & Molecular Life Sciences, 2017, v. 74, n. 13, p. 2513, doi. 10.1007/s00018-017-2472-6
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- Article
Power of concordant versus discordant sib pairs at different penetrance levels.
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- Genetic Epidemiology, 1999, v. 17, p. S679, doi. 10.1002/gepi.13701707111
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- Article
Canalicular ABC transporters and liver disease.
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- Journal of Pathology, 2012, v. 226, n. 2, p. 300, doi. 10.1002/path.3019
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- Article
Influence of ROBO1 and RORA on Risk of Age-Related Macular Degeneration Reveals Genetically Distinct Phenotypes in Disease Pathophysiology.
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- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0025775
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- Article
P3‐436: ASSOCIATION OF HLA SUBTYPES WITH NEUROPATHOLOGICALLY DEFINED ALZHEIMER DISEASE IS MODULATED BY APOE GENOTYPE.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1128, doi. 10.1016/j.jalz.2019.06.3470
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- Article
Identification of a polymorphic glutamic acid stretch in the α<sub>2b</sub>-adrenergic receptor and lack of linkage with essential hypertension.
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- American Journal of Hypertension, 1999, v. 12, n. 9, p. 853, doi. 10.1016/S0895-7061(99)00070-9
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- Article
Symptoms of Nicotine Dependence and Other Predictors of Student Smoking at School: Implications for School Smoking Policy.
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- Journal of School Health, 2003, v. 73, n. 4, p. 154, doi. 10.1111/j.1746-1561.2003.tb03595.x
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- Article
A mouldable fibreglass backslab device as a novel approach to offload chronic plantar foot ulcers: A retrospective observational audit.
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- Journal of Foot & Ankle Research, 2024, v. 17, n. 3, p. 1, doi. 10.1002/jfa2.70001
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- Article
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
- Published in:
- Molecular Medicine Reports, 2018, v. 18, n. 2, p. 1623, doi. 10.3892/mmr.2018.9126
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- Article