Found: 15
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G Protein‐Coupled Receptor Kinase 6 (GRK6) Regulation of Insulin Processing and Secretion.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R4783
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- Publication type:
- Article
G Protein‐Coupled Receptor Kinase 6 (GRK6) Regulation of Insulin Processing and Secretion.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.02961
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- Publication type:
- Article
Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33869-y
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- Publication type:
- Article
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0275-5
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- Publication type:
- Article
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1214, doi. 10.3390/genes13071214
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- Publication type:
- Article
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.
- Published in:
- Disease Markers, 2015, p. 1, doi. 10.1155/2015/828970
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- Publication type:
- Article
CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis.
- Published in:
- Scientific Reports, 2016, p. 35264, doi. 10.1038/srep35264
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- Publication type:
- Article
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-154
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- Publication type:
- Article
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
- Published in:
- 2013
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- Publication type:
- journal article
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 17, p. e97, doi. 10.1093/nar/gkac511
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- Publication type:
- Article
Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 4, p. 992, doi. 10.1038/jid.2014.421
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- Publication type:
- Article
Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 379, doi. 10.1002/humu.22739
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- Publication type:
- Article
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2494, doi. 10.1002/ajmg.a.61377
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- Publication type:
- Article
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1047, doi. 10.1002/ajmg.a.38135
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- Publication type:
- Article
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
- Published in:
- 2022
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- Publication type:
- journal article