Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 8
Results: 15
The effect of body mass index on smoking behaviour and nicotine metabolism: a Mendelian randomization study.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1322, doi. 10.1093/hmg/ddy434
- By:
- Publication type:
- Article
Corrigendum: Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR study.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1402, doi. 10.1093/hmg/ddy417
- By:
- Publication type:
- Article
EAP1 regulation of GnRH promoter activity is important for human pubertal timing.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1357, doi. 10.1093/hmg/ddy451
- By:
- Publication type:
- Article
Dynamic transcriptomic analysis reveals suppression of PGC1 α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1244, doi. 10.1093/hmg/ddy405
- By:
- Publication type:
- Article
Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1381, doi. 10.1093/hmg/ddz011
- By:
- Publication type:
- Article
TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1227, doi. 10.1093/hmg/ddy416
- By:
- Publication type:
- Article
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1312, doi. 10.1093/hmg/ddy432
- By:
- Publication type:
- Article
A robust pipeline with high replication rate for detection of somatic variants in the adaptive immune system as a source of common genetic variation in autoimmune disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1369, doi. 10.1093/hmg/ddy425
- By:
- Publication type:
- Article
Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1298, doi. 10.1093/hmg/ddy429
- By:
- Publication type:
- Article
Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1260, doi. 10.1093/hmg/ddy420
- By:
- Publication type:
- Article
Molecular signatures of X chromosome inactivation and associations with clinical outcomes in epithelial ovarian cancer.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1331, doi. 10.1093/hmg/ddy444
- By:
- Publication type:
- Article
Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1343, doi. 10.1093/hmg/ddy433
- By:
- Publication type:
- Article
Genome-wide association study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1392, doi. 10.1093/hmg/ddz015
- By:
- Publication type:
- Article
FOXF2 is required for cochlear development in humans and mice.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1286, doi. 10.1093/hmg/ddy431
- By:
- Publication type:
- Article
Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 8, p. 1274, doi. 10.1093/hmg/ddy427
- By:
- Publication type:
- Article