Found: 12
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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
- Published in:
- Human Genetics, 2024, v. 143, n. 5, p. 649, doi. 10.1007/s00439-024-02664-3
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- Article
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome.
- Published in:
- 2022
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- Publication type:
- Case Study
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1511
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- Publication type:
- Article
Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1341
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- Publication type:
- Article
Deciphering the DNA code for the function of the Drosophila polydactyl zinc finger protein Suppressor of Hairy-wing.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 8, p. 4463, doi. 10.1093/nar/gkx040
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- Article
Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1883, doi. 10.1002/ajmg.a.62178
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- Article
A case of YY1‐associated syndromic learning disability or Gabriele‐de Vries syndrome with myasthenia gravis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2846, doi. 10.1002/ajmg.a.40626
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- Publication type:
- Article
Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 22, doi. 10.1002/jmd2.12114
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- Publication type:
- Article
A Critical Review of Repurposing Apomorphine for Smoking Cessation.
- Published in:
- Assay & Drug Development Technologies, 2015, v. 13, n. 10, p. 612, doi. 10.1089/adt.2015.680
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- Publication type:
- Article
Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics.
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- Cardiovascular Drugs & Therapy, 2021, v. 35, n. 3, p. 549, doi. 10.1007/s10557-020-06988-w
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- Article
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005165
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- Publication type:
- Article
Correlation Between Programmed Death Receptor-1 Expression in Tumor-Infiltrating Lymphocytes and Programmed Death Ligand-1 Expression in Non--Small Cell Lung Carcinoma.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2018, v. 142, n. 11, p. 1388, doi. 10.5858/arpa.2017-0516-OA
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- Publication type:
- Article