Found: 20
Select item for more details and to access through your institution.
A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans.
- Published in:
- Genetics, 2014, v. 198, n. 2, p. 723, doi. 10.1534/genetics.114.168211
- By:
- Publication type:
- Article
Identification of cis-suppression of human disease mutations by comparative genomics.
- Published in:
- Nature, 2015, v. 524, n. 7564, p. 225, doi. 10.1038/nature14497
- By:
- Publication type:
- Article
Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 1, p. 1, doi. 10.26508/lsa.202201456
- By:
- Publication type:
- Article
Endoglin mediates fibronectin/?5?1 integrin and TGF-? pathway crosstalk in endothelial cells.
- Published in:
- EMBO Journal, 2012, v. 31, n. 19, p. 3885, doi. 10.1038/emboj.2012.246
- By:
- Publication type:
- Article
Endoglin interacts with VEGFR2 to promote angiogenesis.
- Published in:
- FASEB Journal, 2018, v. 32, n. 6, p. 2934, doi. 10.1096/fj.201700867RR
- By:
- Publication type:
- Article
Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development.
- Published in:
- FASEB Journal, 2014, v. 28, n. 3, p. 1248, doi. 10.1096/fj.13-239178
- By:
- Publication type:
- Article
Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 13, p. 1201, doi. 10.1002/pd.1588
- By:
- Publication type:
- Article
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
- Published in:
- Nature, 2012, v. 485, n. 7398, p. 363, doi. 10.1038/nature11091
- By:
- Publication type:
- Article
ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0030677
- By:
- Publication type:
- Article
Rbm8a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 18, p. 7003, doi. 10.1523/JNEUROSCI.0018-15.2015
- By:
- Publication type:
- Article
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
- Published in:
- Nature Genetics, 2009, v. 41, n. 3, p. 359, doi. 10.1038/ng.329
- By:
- Publication type:
- Article
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 875, doi. 10.1038/ng2039
- By:
- Publication type:
- Article
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0111-9
- By:
- Publication type:
- Article
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103
- By:
- Publication type:
- Article
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 669, doi. 10.1002/humu.20935
- By:
- Publication type:
- Article
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E673, doi. 10.1002/humu.21023
- By:
- Publication type:
- Article
Improving laboratory animal genetic reporting: LAG-R guidelines.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49439-y
- By:
- Publication type:
- Article
International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 257, doi. 10.1002/ajmg.a.61406
- By:
- Publication type:
- Article
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1474, doi. 10.1093/hmg/ddy436
- By:
- Publication type:
- Article
Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0139614
- By:
- Publication type:
- Article