Found: 22
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Linkage of familial essential tremor to chromosome 5q35.
- Published in:
- 2016
- By:
- Publication type:
- journal article
T-cell receptor diversity in minimal change disease in the NEPTUNE study.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 4, p. 1115, doi. 10.1007/s00467-022-05696-x
- By:
- Publication type:
- Article
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
- Published in:
- Neurogenetics, 2010, v. 11, n. 3, p. 291, doi. 10.1007/s10048-009-0228-7
- By:
- Publication type:
- Article
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3513, doi. 10.1093/hmg/dds164
- By:
- Publication type:
- Article
Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2009, v. 2, n. 5, p. 258, doi. 10.1002/aur.96
- By:
- Publication type:
- Article
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1214, doi. 10.1038/ejhg.2013.29
- By:
- Publication type:
- Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1074, doi. 10.1038/ejhg.2011.86
- By:
- Publication type:
- Article
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
- Published in:
- 2011
- By:
- Publication type:
- Correction notice
Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
- Published in:
- Age, 2013, v. 35, n. 4, p. 1467, doi. 10.1007/s11357-012-9447-1
- By:
- Publication type:
- Article
Evaluating Mitochondrial DNA Variation in Autism Spectrum Disorders.
- Published in:
- Annals of Human Genetics, 2013, v. 77, n. 1, p. 9, doi. 10.1111/j.1469-1809.2012.00736.x
- By:
- Publication type:
- Article
Genome-Wide Association and Linkage Study in the Amish Detects a Novel Candidate Late-Onset Alzheimer Disease Gene.
- Published in:
- Annals of Human Genetics, 2012, v. 76, n. 5, p. 342, doi. 10.1111/j.1469-1809.2012.00721.x
- By:
- Publication type:
- Article
Genome-Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease.
- Published in:
- Annals of Human Genetics, 2010, v. 74, n. 2, p. 97, doi. 10.1111/j.1469-1809.2009.00560.x
- By:
- Publication type:
- Article
A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 3, p. 263, doi. 10.1111/j.1469-1809.2009.00523.x
- By:
- Publication type:
- Article
Dementia revealed: Novel chromosome 6 locus for late-onset Alzheimer's disease provides genetic evidence for folate-pathway abnormalities
- Published in:
- 2010
- By:
- Publication type:
- Abstract
ELAVL4 locus confirmed in depression of Alzheimer's disease
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Genome-wide association study validates associations in APOE, VDR, SORL1, WWC1, and ELAVL4 and identifies novel candidate genes for late-onset Alzheimer's disease
- Published in:
- 2009
- By:
- Publication type:
- Abstract
GRB-associated binding protein 2 (GAB2) interacts with APOE to alter risk of late-onset Alzheimer's disease
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029729
- By:
- Publication type:
- Article
Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026049
- By:
- Publication type:
- Article
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
- Published in:
- Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0034-z
- By:
- Publication type:
- Article
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
- Published in:
- Molecular Autism, 2014, v. 5, n. 1, p. 3, doi. 10.1186/2040-2392-5-1
- By:
- Publication type:
- Article
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism.
- Published in:
- Molecular Autism, 2011, v. 2, n. 1, p. 1, doi. 10.1186/2040-2392-2-1
- By:
- Publication type:
- Article