Found: 42
Select item for more details and to access through your institution.
Quantitative optical coherence tomography imaging of intermediate flow defect phenotypes in ciliary physiology and pathophysiology.
- Published in:
- Journal of Biomedical Optics, 2015, v. 20, n. 3, p. 1, doi. 10.1117/1.JBO.20.3.030502
- By:
- Publication type:
- Article
Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34363-w
- By:
- Publication type:
- Article
A retrospective cohort analysis of the Yale pediatric genomics discovery program.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2869, doi. 10.1002/ajmg.a.62918
- By:
- Publication type:
- Article
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1076, doi. 10.1002/ajmg.a.62064
- By:
- Publication type:
- Article
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2291, doi. 10.1002/ajmg.a.61783
- By:
- Publication type:
- Article
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1135, doi. 10.1038/ng.3066
- By:
- Publication type:
- Article
Gremlin is the BMP antagonist required for maintenance of Shh and Fgf signals during limb patterning.
- Published in:
- Nature Genetics, 2003, v. 34, n. 3, p. 303, doi. 10.1038/ng1178
- By:
- Publication type:
- Article
CRISPRscan: designing highly efficient sgRNAs for CRISPR-Cas9 targeting in vivo.
- Published in:
- Nature Methods, 2015, v. 12, n. 10, p. 982, doi. 10.1038/nmeth.3543
- By:
- Publication type:
- Article
Expanding EMC foldopathies: Topogenesis deficits alter the neural crest.
- Published in:
- Genesis: The Journal of Genetics & Development, 2023, v. 61, n. 5, p. 1, doi. 10.1002/dvg.23520
- By:
- Publication type:
- Article
Xenopus white papers and resources: Folding functional genomics and genetics into the frog.
- Published in:
- Genesis: The Journal of Genetics & Development, 2012, v. 50, n. 3, p. 133, doi. 10.1002/dvg.22015
- By:
- Publication type:
- Article
The Hitchhiker's guide to Xenopus genetics.
- Published in:
- Genesis: The Journal of Genetics & Development, 2012, v. 50, n. 3, p. 164, doi. 10.1002/dvg.22007
- By:
- Publication type:
- Article
Techniques and probes for the study of Xenopus tropicalis development.
- Published in:
- Developmental Dynamics, 2002, v. 225, n. 4, p. 499, doi. 10.1002/dvdy.10184
- By:
- Publication type:
- Article
Functional testing for variant prioritization in a family with long QT syndrome.
- Published in:
- Molecular Genetics & Genomics, 2021, v. 296, n. 4, p. 823, doi. 10.1007/s00438-021-01780-3
- By:
- Publication type:
- Article
Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography.
- Published in:
- Scientific Reports, 2017, p. 42506, doi. 10.1038/srep42506
- By:
- Publication type:
- Article
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.
- Published in:
- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01715
- By:
- Publication type:
- Article
Conserved chromatin and repetitive patterns reveal slow genome evolution in frogs.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-43012-9
- By:
- Publication type:
- Article
Author Correction: Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Breeding Based Remobilization of Tol2 Transposon in <i>Xenopus tropicalis</i>.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076807
- By:
- Publication type:
- Article
A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred Foals.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1009028
- By:
- Publication type:
- Article
Paired Box 9 (PAX9), the RNA polymerase II transcription factor, regulates human ribosome biogenesis and craniofacial development.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 8, p. 1, doi. 10.1371/journal.pgen.1008967
- By:
- Publication type:
- Article
White paper on the study of birth defects.
- Published in:
- Birth Defects Research, 2017, v. 109, n. 2, p. 180, doi. 10.1002/bdra.23590
- By:
- Publication type:
- Article
Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.66076
- By:
- Publication type:
- Article
Codon identity regulates mRNA stability and translation efficiency during the maternal-to-zygotic transition.
- Published in:
- EMBO Journal, 2016, v. 35, n. 19, p. 2087, doi. 10.15252/embj.201694699
- By:
- Publication type:
- Article
De novo damaging variants associated with congenital heart diseases contribute to the connectome.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63928-2
- By:
- Publication type:
- Article
Author Correction: Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Embryonic exposure to propylthiouracil disrupts left-right patterning in Xenopus embryos.
- Published in:
- FASEB Journal, 2013, v. 27, n. 2, p. 684, doi. 10.1096/fj.12-218073
- By:
- Publication type:
- Article
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Strategies for characterising cis-regulatory elements in Xenopus.
- Published in:
- Briefings in Functional Genomics & Proteomics, 2005, v. 4, n. 1, p. 58, doi. 10.1093/bfgp/4.1.58
- By:
- Publication type:
- Article
Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 1, p. 109, doi. 10.1111/cge.14430
- By:
- Publication type:
- Article
Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.
- Published in:
- BMC Developmental Biology, 2016, v. 16, p. 1, doi. 10.1186/s12861-016-0138-5
- By:
- Publication type:
- Article
Rapid gynogenetic mapping of Xenopus tropicalis mutations to chromosomes.
- Published in:
- Developmental Dynamics, 2009, v. 238, n. 6, p. 1398, doi. 10.1002/dvdy.21965
- By:
- Publication type:
- Article
Kap-β2/Transportin mediates β-catenin nuclear transport in Wnt signaling.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.70495
- By:
- Publication type:
- Article
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality.
- Published in:
- Nature, 2013, v. 504, n. 7480, p. 456, doi. 10.1038/nature12723
- By:
- Publication type:
- Article
CRISPR-Cpf1 mediates efficient homology-directed repair and temperature-controlled genome editing.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01836-2
- By:
- Publication type:
- Article
Xenopus : Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis.
- Published in:
- Frontiers in Physiology, 2019, p. 1, doi. 10.3389/fphys.2019.00953
- By:
- Publication type:
- Article
Candidate Heterotaxy Gene FGFR4 Is Essential for Patterning of the Left-Right Organizer in Xenopus.
- Published in:
- Frontiers in Physiology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.01705
- By:
- Publication type:
- Article
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus.
- Published in:
- 2015
- By:
- Publication type:
- Essay
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-42549-4
- By:
- Publication type:
- Article
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 430, doi. 10.3390/ijms25010430
- By:
- Publication type:
- Article
Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing.
- Published in:
- BMC Genomics, 2012, v. 13, n. 1, p. 649, doi. 10.1186/1471-2164-13-649
- By:
- Publication type:
- Article
A Review of Genetics / Genomics from 1992 - 2017: Promise, Progress, and Challenges Ahead.
- Published in:
- Connecticut Medicine, 2017, v. 81, n. 8, p. 479
- By:
- Publication type:
- Article