Found: 15
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A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
- Published in:
- Movement Disorders, 2009, v. 24, n. 3, p. 364, doi. 10.1002/mds.22363
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- Article
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations.
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- Human Genetics, 2007, v. 121, n. 2, p. 275, doi. 10.1007/s00439-006-0316-9
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- Article
Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.
- Published in:
- 2017
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- Publication type:
- journal article
Novel Mutations in the Adiponectin Gene (ADIPOQ).
- Published in:
- Diabetes, 2007, v. 56, p. A303
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- Publication type:
- Article
Identification of SARS-CoV-2 variants using viral sequencing for the Centers for Disease Control and Prevention genomic surveillance program.
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- BMC Infectious Diseases, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12879-022-07374-7
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- Article
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.
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- Acta Neuropathologica, 2020, v. 139, n. 1, p. 157, doi. 10.1007/s00401-019-02086-w
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- Article
Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss.
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- Otolaryngology-Head & Neck Surgery, 2013, v. 148, n. 6, p. 1007, doi. 10.1177/0194599813482294
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- Article
Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient.
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- British Journal of Haematology, 2011, v. 152, n. 6, p. 780, doi. 10.1111/j.1365-2141.2010.08516.x
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- Article
Gaucher Disease: Transcriptome Analyses Using Microarray or mRNA Sequencing in a <i>Gba1</i> Mutant Mouse Model Treated with Velaglucerase alfa or Imiglucerase.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0074912
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- Article
Lampe1: An ENU-Germline Mutation Causing Spontaneous Hepatosteatosis Identified through Targeted Exon-Enrichment and Next-Generation Sequencing.
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- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0021979
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- Article
Fine mapping of loci linked to autoimmune thyroid disease identifies novel susceptibility genes.
- Published in:
- 2013
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- Publication type:
- journal article
Dissecting the genetic susceptibility to graves' Disease in a cohort of Patients of Italian Origin.
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- Frontiers in Endocrinology, 2016, p. 1, doi. 10.3389/fendo.2016.00021
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- Publication type:
- Article
Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 24, p. 7031, doi. 10.1093/hmg/ddv404
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- Article
Analysis of Immune Regulatory Genes' Copy Number Variants in Graves' Disease.
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- Thyroid, 2011, v. 21, n. 1, p. 69, doi. 10.1089/thy.2010.0262
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- Article
Genome scan of idiopathic generalized epilepsy: Evidence for major susceptibility gene and modifying genes influencing the seizure type.
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- Annals of Neurology, 2001, v. 49, n. 3, p. 328, doi. 10.1002/ana.69
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- Article