Found: 12
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Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1354
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- Publication type:
- Article
Retinal detachment in Loeys–Dietz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 846, doi. 10.1002/ajmg.a.63077
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- Publication type:
- Article
Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1498, doi. 10.1002/ajmg.a.61191
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- Article
A CONSERVATIVE'S IDEAS ON ECONOMIC REFORM.
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- Quarterly Journal of Economics, 1960, v. 74, n. 4, p. 536, doi. 10.2307/1884350
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- Publication type:
- Article
Inferior petrosal sinus ACTH and prolactin responses to CRH in ACTH-dependent Cushing’s syndrome: a single centre experience from the United Kingdom.
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- Pituitary, 2010, v. 13, n. 2, p. 95, doi. 10.1007/s11102-009-0200-4
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- Publication type:
- Article
Oxidation Inhibition Mechanisms in Coated Carbon-Carbon Composites.
- Published in:
- Journal of the American Ceramic Society, 1992, v. 75, n. 3, p. 703, doi. 10.1111/j.1151-2916.1992.tb07862.x
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- Publication type:
- Article
Novel Combinatorial MicroRNA-Binding Sites in AAV Vectors Synergistically Diminish Antigen Presentation and Transgene Immunity for Efficient and Stable Transduction.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.674242
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- Publication type:
- Article
A SYNTHETIC THEORY OF INTEREST.
- Published in:
- Quarterly Journal of Economics, 1954, v. 68, n. 4, p. 649, doi. 10.2307/1881883
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- Publication type:
- Article
THE SUPPOSED NECESSITY FOR AN INDUSTRIAL RESERVE ARMY.
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- Social Forces, 1927, v. 5, n. 3, p. 369, doi. 10.2307/3004491
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- Publication type:
- Article
Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome.
- Published in:
- European Journal of Ophthalmology, 2024, v. 34, n. 1, p. NP1, doi. 10.1177/11206721231169309
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- Publication type:
- Article
Autosomal Recessive Stickler Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1135, doi. 10.3390/genes13071135
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- Publication type:
- Article
SARS-CoV-2 Serosurveys: How antigen, isotype and threshold choices affect the outcome.
- Published in:
- 2023
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- Publication type:
- journal article