Found: 12
Select item for more details and to access through your institution.
study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 2093, doi. 10.1093/hmg/ddz018
- By:
- Publication type:
- Article
UBE3A regulates the transcription of IRF, an antiviral immunity.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 1947, doi. 10.1093/hmg/ddz019
- By:
- Publication type:
- Article
Titin truncations lead to impaired cardiomyocyte autophagy and mitochondrial function in vivo.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 1971, doi. 10.1093/hmg/ddz033
- By:
- Publication type:
- Article
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 1931, doi. 10.1093/hmg/ddy449
- By:
- Publication type:
- Article
CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 1959, doi. 10.1093/hmg/ddz029
- By:
- Publication type:
- Article
Disturbed neurotransmitter homeostasis in ether lipid deficiency.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 2046, doi. 10.1093/hmg/ddz040
- By:
- Publication type:
- Article
HDAC inhibitors rescue multiple disease-causing CFTR variants.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 1982, doi. 10.1093/hmg/ddz026
- By:
- Publication type:
- Article
Defining the genetic control of human blood plasma N-glycome using genome-wide association study.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 2062, doi. 10.1093/hmg/ddz054
- By:
- Publication type:
- Article
Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 2014, doi. 10.1093/hmg/ddz034
- By:
- Publication type:
- Article
Mineralocorticoid receptor antagonists improve membrane integrity independent of muscle force in muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 2030, doi. 10.1093/hmg/ddz039
- By:
- Publication type:
- Article
Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 2078, doi. 10.1093/hmg/ddy443
- By:
- Publication type:
- Article
Cellular α -synuclein pathology is associated with bioenergetic dysfunction in Parkinson's iPSC-derived dopamine neurons.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 12, p. 2001, doi. 10.1093/hmg/ddz038
- By:
- Publication type:
- Article