Found: 22
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Chromosome location, genomic organization of the porcine COL10A1 gene and model structure of the NC1 domain.
- Published in:
- Cytogenetic & Genome Research, 2003, v. 102, n. 1-4, p. 173, doi. 10.1159/000075744
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- Publication type:
- Article
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
- Published in:
- 2005
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- Publication type:
- Journal Article
Individual pharmacokinetic variation leads to underdosing of ciprofloxacin in some cystic fibrosis patients.
- Published in:
- Pediatric Pulmonology, 2017, v. 52, n. 3, p. 319, doi. 10.1002/ppul.23638
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- Publication type:
- Article
Clinician's guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 221, doi. 10.1111/cge.13153
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- Publication type:
- Article
Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10‐year Prospective Cohort.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 4, p. 925, doi. 10.1111/cge.13201
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- Publication type:
- Article
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 3, p. 279, doi. 10.1111/j.1399-0004.2012.01903.x
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- Publication type:
- Article
A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype.
- Published in:
- 2008
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- Publication type:
- Letter
Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy.
- Published in:
- 2005
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- Publication type:
- Letter
Mitochondrial dysfunction and risk of cancer.
- Published in:
- British Journal of Cancer, 2015, v. 112, n. 6, p. 1134, doi. 10.1038/bjc.2015.66
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- Publication type:
- Article
Mitochondrial dysfunction and risk of cancer.
- Published in:
- 2015
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- Publication type:
- journal article
Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study.
- Published in:
- European Journal of Neurology, 2014, v. 21, n. 9, p. 1192, doi. 10.1111/ene.12466
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- Publication type:
- Article
Short- and long-term effects of endurance training in patients with mitochondrial myopathy.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 12, p. 1336, doi. 10.1111/j.1468-1331.2009.02660.x
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- Publication type:
- Article
Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort.
- Published in:
- Spinal Cord, 2014, v. 52, n. 1, p. 77, doi. 10.1038/sc.2013.116
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- Publication type:
- Article
Successful treatment with dupilumab of an adult with Netherton syndrome.
- Published in:
- Clinical & Experimental Dermatology, 2020, v. 45, n. 7, p. 915, doi. 10.1111/ced.14317
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- Publication type:
- Article
Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults.
- Published in:
- Osteoporosis International, 2018, v. 29, n. 12, p. 2781, doi. 10.1007/s00198-018-4663-x
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- Publication type:
- Article
Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/ COL1A2 genotype and collagen structure.
- Published in:
- Osteoporosis International, 2016, v. 27, n. 11, p. 3331, doi. 10.1007/s00198-016-3653-0
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- Publication type:
- Article
Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: Case Report.
- Published in:
- Human Reproduction, 2007, v. 22, n. 7, p. 1907, doi. 10.1093/humrep/dem126
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- Publication type:
- Article
Endocrine function in 97 patients with myotonic dystrophy type 1.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 5, p. 912, doi. 10.1007/s00415-011-6277-5
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- Publication type:
- Article
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome.
- Published in:
- Acta Neurologica Scandinavica, 2018, v. 137, n. 5, p. 452, doi. 10.1111/ane.12885
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- Publication type:
- Article
Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy.
- Published in:
- Acta Neurologica Scandinavica, 2014, v. 130, n. 2, p. 125, doi. 10.1111/ane.12244
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- Publication type:
- Article
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, p. 235, doi. 10.1007/s10545-009-1179-8
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- Publication type:
- Article
Leukocyte cDNA Analysis of NSD1 Derived from Confirmed Sotos Syndrome Patients.
- Published in:
- Annals of Human Genetics, 2007, v. 71, n. 6, p. 713, doi. 10.1111/j.1469-1809.2007.00376.x
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- Publication type:
- Article