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Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40363-1
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- Article
Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 14, p. 2670, doi. 10.1093/hmg/ddp208
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- Article
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.
- Published in:
- Nature Communications, 2015, v. 6, n. 3, p. 6404, doi. 10.1038/ncomms7404
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- Article
ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration.
- Published in:
- EMBO Molecular Medicine, 2022, v. 14, n. 7, p. 1, doi. 10.15252/emmm.202216289
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- Article
ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration.
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- EMBO Molecular Medicine, 2020, v. 12, n. 10, p. 1, doi. 10.15252/emmm.202012013
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- Publication type:
- Article
RNA-Seq Profiling of Spinal Cord Motor Neurons from a Presymptomatic SOD1 ALS Mouse.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053575
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- Article
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.
- Published in:
- Human Genetics, 2023, v. 142, n. 10, p. 1531, doi. 10.1007/s00439-023-02596-4
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- Article
Ube3a unsilencer for the potential treatment of Angelman syndrome.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49788-8
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- Article
Integration of multimodal data in the developing tooth reveals candidate regulatory loci driving human odontogenic phenotypes.
- Published in:
- Frontiers in Dental Medicine, 2024, p. 1, doi. 10.3389/fdmed.2022.1009264
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- Article
Relative abundance of the human mitochondrial transcription system and distinct roles for h-mtTFB1 and h-mtTFB2 in mitochondrial biogenesis and gene expression.
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- Nucleic Acids Research, 2007, v. 35, n. 12, p. 4042, doi. 10.1093/nar/gkm424
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- Article
Evidence against tetrapod-wide digit identities and for a limited frame shift in bird wings.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-11215-8
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- Publication type:
- Article
Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 19, p. 3285, doi. 10.1093/hmg/ddaa210
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- Publication type:
- Article
Evidence for an Early Gene Duplication Event in the Evolution of the Mitochondrial Transcription Factor B Family and Maintenance of rRNA Methyltransferase Activity in Human mtTFB1 and mtTFB2.
- Published in:
- Journal of Molecular Evolution, 2006, v. 63, n. 5, p. 707, doi. 10.1007/s00239-006-0075-1
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- Article
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 171, doi. 10.1002/mgg3.354
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- Article