Found: 25
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Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71159-y
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- Publication type:
- Article
PACIFIC WESTERN AIRLINES.
- Published in:
- CAHS Journal, 2017, v. 55, n. 4, p. 140
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- Publication type:
- Article
HOWARD'S DGA DAMN GOOD AEROPLANES in Canada.
- Published in:
- CAHS Journal, 2014, v. 52, n. 2, p. 74
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- Publication type:
- Article
BEECHCRAFT T-34 MENTOR in Canada.
- Published in:
- CAHS Journal, 2013, v. 51, n. 1, p. 34
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- Publication type:
- Article
Zebrafish Models of Photoreceptor Dysfunction and Degeneration.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 1, p. 78, doi. 10.3390/biom11010078
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- Publication type:
- Article
Case Report: Exotropia Surgery in CPEO.
- Published in:
- American Orthoptic Journal, 2003, v. 53, p. 133, doi. 10.3368/aoj.53.1.133
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- Publication type:
- Article
Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 10, p. 2214, doi. 10.3390/cells9102214
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- Publication type:
- Article
Bilateral uveitis and Usher syndrome: a case report.
- Published in:
- 2015
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- Publication type:
- Case Study
Bilateral uveitis and Usher syndrome: a case report.
- Published in:
- 2015
- By:
- Publication type:
- journal article
PRIVATE HEALTH CARE SERVICES.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1995, v. 153, n. 10, p. 1417
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- Publication type:
- Article
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 344, doi. 10.1002/mgg3.208
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- Publication type:
- Article
Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients.
- Published in:
- PLoS ONE, 2009, v. 4, n. 12, p. 1, doi. 10.1371/journal.pone.0008402
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- Publication type:
- Article
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
- Published in:
- Nature Genetics, 2001, v. 27, n. 1, p. 89, doi. 10.1038/83817
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- Publication type:
- Article
Improved electroretinographic responses following dietary intervention in a patient with Refsum disease.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 32, doi. 10.1002/jmd2.12147
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- Publication type:
- Article
Linking Genetic Duplications to Choroideremia Pathology.
- Published in:
- 2011
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- Publication type:
- Abstract
A diagnostic approach to syndromic retinal dystrophies with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 538, doi. 10.1002/ajmg.c.31834
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- Publication type:
- Article
Genetics and ARMD.
- Published in:
- 2004
- By:
- Publication type:
- letter
Single-base substitutions in the CHM promoter as a cause of choroideremia.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 704, doi. 10.1002/humu.23212
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- Publication type:
- Article
Mutational analysis of patients with the diagnosis of choroideremia.
- Published in:
- Human Mutation, 2002, v. 20, n. 3, p. 189, doi. 10.1002/humu.10114
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- Publication type:
- Article
A 3-base pair insertional mutation in the choroideremia gene.
- Published in:
- Human Mutation, 1998, v. 11, p. S38, doi. 10.1002/humu.1380110113
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- Publication type:
- Article
Ocular Gene Therapy with Adeno-associated Virus Vectors: Current Outlook for Patients and Researchers.
- Published in:
- Journal of Ophthalmic & Vision Research, 2020, v. 15, n. 3, p. 396, doi. 10.18502/jovr.v15i3.7457
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- Publication type:
- Article
Reduction of Arachidonate Is Associated With Increase in B-Cell Activation Marker in Infants: A Randomized Trial.
- Published in:
- 2017
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- Publication type:
- journal article
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 17, doi. 10.1186/1471-2350-5-17
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- Publication type:
- Article
An internet-based health survey on the co-morbidities of choroideremia patients.
- Published in:
- Ophthalmic & Physiological Optics, 2013, v. 33, n. 2, p. 157, doi. 10.1111/opo.12023
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- Publication type:
- Article
Current concepts in the treatment of retinitis pigmentosa.
- Published in:
- 2011
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- Publication type:
- Journal Article