Found: 12
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Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation.
- Published in:
- Movement Disorders, 2011, v. 26, n. 10, p. 1964, doi. 10.1002/mds.23749
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- Publication type:
- Article
The use of esketamine in comorbid treatment resistant depression and obsessive compulsive disorder following extensive pharmacogenomic testing: a case report.
- Published in:
- Annals of General Psychiatry, 2021, v. 20, n. 1, p. 1, doi. 10.1186/s12991-021-00365-z
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- Publication type:
- Article
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.
- Published in:
- Neurogenetics, 2024, v. 25, n. 3, p. 215, doi. 10.1007/s10048-024-00756-w
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- Article
Molecular basis, diagnosis and clinical management of mucopolysaccharidoses.
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- Cardiogenetics, 2013, v. 3, n. 1s, p. 2, doi. 10.4081/cardiogenetics.2013.s1.e2
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- Article
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
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- Genes, 2021, v. 12, n. 11, p. 1778, doi. 10.3390/genes12111778
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- Publication type:
- Article
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0553-2
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- Article
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
- Published in:
- 2019
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- Publication type:
- journal article
Investigating the role of X chromosome breakpoints in premature ovarian failure.
- Published in:
- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 32, doi. 10.1186/1755-8166-5-32
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- Publication type:
- Article
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase ( IDUA) alleles.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2189, doi. 10.1002/humu.21479
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- Publication type:
- Article
Enhancing the engagement of forest-based industries in ecosystem restoration.
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- Unasylva, 2023, v. 74, n. 254, p. 79
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- Publication type:
- Article
Transforming agrifood systems with and for forests.
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- Unasylva, 2022, v. 73, n. 253, p. 39
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- Publication type:
- Article
Molecular Analysis in a Turkish Patient with Severe Form of Hurler Syndrome: Identification of a Novel c.826_828del3 Mutation.
- Published in:
- Erciyes Medical Journal / Erciyes Tip Dergisi, 2010, v. 32, n. 1, p. 41
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- Publication type:
- Article