Found: 17
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Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
- Published in:
- Journal of Paediatrics & Child Health, 2024, v. 60, n. 4/5, p. 118, doi. 10.1111/jpc.16547
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- Publication type:
- Article
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3597, doi. 10.1093/hmg/ddac040
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- Publication type:
- Article
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 3905, doi. 10.3390/ijms23073905
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- Publication type:
- Article
Web Content and Digitization Patterns of Tribal College Libraries Within the Great Plains Region.
- Published in:
- Qualitative & Quantitative Methods in Libraries, 2016, v. 5, n. 3, p. 677
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- Publication type:
- Article
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1632, doi. 10.1002/humu.22431
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- Publication type:
- Article
PLANT SYSTEMATICS WORLD.
- Published in:
- Taxon, 2013, v. 62, n. 4, p. 851, doi. 10.12705/624.25
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- Publication type:
- Article
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
- Published in:
- Nature Genetics, 2010, v. 42, n. 6, p. 483, doi. 10.1038/ng.581
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- Publication type:
- Article
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 5, p. 573, doi. 10.1002/ana.21482
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- Publication type:
- Article
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene ( OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. 823, doi. 10.1002/humu.20708
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- Publication type:
- Article
DID HT CAUSE THIS WOMAN'S DRY EYES?
- Published in:
- 2007
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- Publication type:
- Question & Answer
Effects of Topical Anti-Inflammatory Agents in A Botulinum Toxin B—Induced Mouse Model of Keratoconjunctivitis Sicca.
- Published in:
- Journal of Ocular Pharmacology & Therapeutics, 2007, v. 23, n. 1, p. 27, doi. 10.1089/jop.2006.0071
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- Publication type:
- Article
Sensorineural Hearing Loss in Vogt-Koyanagi-Harada Syndrome.
- Published in:
- Laryngoscope, 2006, v. 116, n. 10, p. 1873, doi. 10.1097/01.mlg.0000234946.31603.fe
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- Publication type:
- Article
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1312, doi. 10.1038/ng1678
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- Publication type:
- Article
The expanding phenotype of cystic fibrosis.
- Published in:
- 2004
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- Publication type:
- case study
Comparison of the NEI-VFQ and OSDI questionnaires in patients with Sjögren's syndrome-related dry eye.
- Published in:
- Health & Quality of Life Outcomes, 2004, v. 2, p. 44, doi. 10.1186/1477-7525-2-44
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- Publication type:
- Article
Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.
- Published in:
- Human Genetics, 2003, v. 112, n. 5/6, p. 593, doi. 10.1007/s00439-002-0905-1
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- Publication type:
- Article
AUSTRALIA: REMOTE AREA NURSES'EXPERIENCES OF VIOLENCE.
- Published in:
- International Journal of Nursing Practice (Wiley-Blackwell), 1995, v. 1, n. 1, p. 67, doi. 10.1111/j.1440-172X.1995.tb00012.x
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- Publication type:
- Article