Found: 13
Select item for more details and to access through your institution.
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 775, doi. 10.1007/s00439-015-1550-9
- By:
- Publication type:
- Article
A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 705, doi. 10.1007/s00439-015-1552-7
- By:
- Publication type:
- Article
Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 717, doi. 10.1007/s00439-015-1554-5
- By:
- Publication type:
- Article
An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 749, doi. 10.1007/s00439-015-1555-4
- By:
- Publication type:
- Article
Human primary biliary cirrhosis-susceptible allele of rs4979462 enhances TNFSF15 expression by binding NF-1.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 737, doi. 10.1007/s00439-015-1556-3
- By:
- Publication type:
- Article
Alison Thomas: Introducing Genetics.
- Published in:
- 2015
- By:
- Publication type:
- Book Review
The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 803, doi. 10.1007/s00439-015-1558-1
- By:
- Publication type:
- Article
A cautionary note on the impact of protocol changes for genome-wide association SNP × SNP interaction studies: an example on ankylosing spondylitis.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 761, doi. 10.1007/s00439-015-1560-7
- By:
- Publication type:
- Article
Copy number variation in the human Y chromosome in the UK population.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 789, doi. 10.1007/s00439-015-1562-5
- By:
- Publication type:
- Article
Telomere length and common disease: study design and analytical challenges.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 679, doi. 10.1007/s00439-015-1563-4
- By:
- Publication type:
- Article
Erratum to: Copy number variation in the human Y chromosome in the UK population.
- Published in:
- 2015
- By:
- Publication type:
- Erratum
A narrow heritability evaluation of gestational age at birth.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
- Published in:
- Human Genetics, 2015, v. 134, n. 7, p. 691, doi. 10.1007/s00439-015-1549-2
- By:
- Publication type:
- Article