Found: 86
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Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population.
- Published in:
- BMC Medical Genetics, 2006, v. 7, p. 86, doi. 10.1186/1471-2350-7-86
- Publication type:
- Article
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
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- BMC Medical Genetics, 2006, v. 7, p. 77, doi. 10.1186/1471-2350-7-77
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- Article
Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.
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- BMC Medical Genetics, 2006, v. 7, p. 75, doi. 10.1186/1471-2350-7-75
- Publication type:
- Article
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
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- BMC Medical Genetics, 2006, v. 7, p. 69, doi. 10.1186/1471-2350-7-69
- Publication type:
- Article
Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma.
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- BMC Medical Genetics, 2006, v. 7, p. 68, doi. 10.1186/1471-2350-7-68
- Publication type:
- Article
Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients.
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- BMC Medical Genetics, 2006, v. 7, p. 61, doi. 10.1186/1471-2350-7-61
- Publication type:
- Article
Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.
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- BMC Medical Genetics, 2006, v. 7, p. 59, doi. 10.1186/1471-2350-7-59
- Publication type:
- Article
N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients.
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- BMC Medical Genetics, 2006, v. 7, p. 58, doi. 10.1186/1471-2350-7-58
- Publication type:
- Article
β3-adrenergic receptor gene, body mass index, bone mineral density and fracture risk in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES).
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- BMC Medical Genetics, 2006, v. 7, p. 57, doi. 10.1186/1471-2350-7-57
- Publication type:
- Article
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
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- BMC Medical Genetics, 2006, v. 7, p. 53, doi. 10.1186/1471-2350-7-53
- Publication type:
- Article
Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
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- BMC Medical Genetics, 2006, v. 7, p. 43, doi. 10.1186/1471-2350-7-43
- Publication type:
- Article
Eight previously unidentified mutations found in the OA1 ocular albinism gene.
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- BMC Medical Genetics, 2006, v. 7, p. 41, doi. 10.1186/1471-2350-7-41
- Publication type:
- Article
Deletions in the Y-derived amelogenin gene fragment in the Indian population.
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- BMC Medical Genetics, 2006, v. 7, p. 37, doi. 10.1186/1471-2350-7-37
- Publication type:
- Article
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
- Published in:
- BMC Medical Genetics, 2006, v. 7, p. 35, doi. 10.1186/1471-2350-7-35
- Publication type:
- Article
GAIA: An easy-to-use web-based application for interaction analysis of case-control data.
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- BMC Medical Genetics, 2006, v. 7, p. 34, doi. 10.1186/1471-2350-7-34
- Publication type:
- Article
N-acetyltransferase 2 (NAT2) gene polymorphisms in Parkinson's disease.
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- BMC Medical Genetics, 2006, v. 7, p. 30, doi. 10.1186/1471-2350-7-30
- Publication type:
- Article
Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21.
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- BMC Medical Genetics, 2006, v. 7, p. 24, doi. 10.1186/1471-2350-7-24
- Publication type:
- Article
Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program.
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- BMC Medical Genetics, 2006, v. 7, p. 17, doi. 10.1186/1471-2350-7-17
- Publication type:
- Article
Multilevel analysis of systolic blood pressure and ACE gene I/D polymorphism in 438 Swedish families--a public health perspective.
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- BMC Medical Genetics, 2006, v. 7, p. 14, doi. 10.1186/1471-2350-7-14
- Publication type:
- Article
A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
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- BMC Medical Genetics, 2006, v. 7, p. 13, doi. 10.1186/1471-2350-7-13
- Publication type:
- Article
Gene expression profiles in Finnish twins with multiple sclerosis.
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- BMC Medical Genetics, 2006, v. 7, p. 11, doi. 10.1186/1471-2350-7-11
- Publication type:
- Article
Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
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- BMC Medical Genetics, 2006, v. 7, p. 8, doi. 10.1186/1471-2350-7-8
- Publication type:
- Article
The GCC repeat length in the 5'UTR of MRP1 gene is polymorphic: a functional characterization of its relevance for cystic fibrosis.
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- BMC Medical Genetics, 2006, v. 7, p. 7, doi. 10.1186/1471-2350-7-7
- Publication type:
- Article
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
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- BMC Medical Genetics, 2006, v. 7, p. 6, doi. 10.1186/1471-2350-7-6
- Publication type:
- Article
β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus.
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- BMC Medical Genetics, 2006, v. 7, p. 85, doi. 10.1186/1471-2350-7-85
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- Article
A novel mutation in the SH3BP2 gene causes cherubism: case report.
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- BMC Medical Genetics, 2006, v. 7, p. 84, doi. 10.1186/1471-2350-7-84
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- Article
INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families.
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- BMC Medical Genetics, 2006, v. 7, p. 83, doi. 10.1186/1471-2350-7-83
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- Article
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.
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- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-82
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- Article
Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability.
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- BMC Medical Genetics, 2006, v. 7, p. 74, doi. 10.1186/1471-2350-7-74
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- Article
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
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- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-80
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- Article
No association between polymorphisms in the BDNF gene and age at onset in Huntington disease.
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- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-79
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- Article
Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke.
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- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-78
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- Article
Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans.
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- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-76
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- Article
Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.
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- BMC Medical Genetics, 2006, v. 7, p. 81, doi. 10.1186/1471-2350-7-81
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- Article
A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.
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- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-73
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- Article
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
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- BMC Medical Genetics, 2006, v. 7, p. 72, doi. 10.1186/1471-2350-7-72
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- Article
Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study.
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- BMC Medical Genetics, 2006, v. 7, p. 71, doi. 10.1186/1471-2350-7-71
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- Article
Potassium channel gene mutations rarely cause atrial fibrillation.
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- BMC Medical Genetics, 2006, v. 7, p. 70, doi. 10.1186/1471-2350-7-70
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- Article
Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study.
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- BMC Medical Genetics, 2006, v. 7, p. 67, doi. 10.1186/1471-2350-7-67
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- Article
Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.
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- BMC Medical Genetics, 2006, v. 7, p. 65, doi. 10.1186/1471-2350-7-65
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- Article
An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians.
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- BMC Medical Genetics, 2006, v. 7, p. 64, doi. 10.1186/1471-2350-7-64
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- Article
The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women.
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- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-66
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- Article
Three allele combinations associated with Multiple Sclerosis.
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- BMC Medical Genetics, 2006, v. 7, p. 63, doi. 10.1186/1471-2350-7-63
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- Article
Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects.
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- BMC Medical Genetics, 2006, v. 7, p. 62, doi. 10.1186/1471-2350-7-62
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- Article
Familial deletion 18p syndrome: case report.
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- BMC Medical Genetics, 2006, v. 7, p. 60, doi. 10.1186/1471-2350-7-60
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- Article
The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians.
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- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-51
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- Article
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
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- BMC Medical Genetics, 2006, v. 7, p. 55, doi. 10.1186/1471-2350-7-55
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- Article
Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study.
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- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-54
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- Article
E-selectin S128R polymorphism and severe coronary artery disease in Arabs.
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- BMC Medical Genetics, 2006, v. 7, p. 52, doi. 10.1186/1471-2350-7-52
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- Article
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study.
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- BMC Medical Genetics, 2006, v. 7, p. 56, doi. 10.1186/1471-2350-7-56
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- Article