Found: 11
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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 386, p. 1, doi. 10.1126/scitranslmed.aal5209
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- Article
Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits.
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- Diabetes, 2024, v. 73, n. 7, p. 1099, doi. 10.2337/db23-0575
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- Publication type:
- Article
RNAseq analysis for the diagnosis of muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 55, doi. 10.1002/acn3.267
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- Article
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 12, p. 1, doi. 10.15252/emmm.202013787
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- Article
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
- Published in:
- 2021
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- Correction Notice
The ExAC browser: displaying reference data information from over 60 000 exomes.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D840, doi. 10.1093/nar/gkw971
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- Publication type:
- Article
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-12438-5
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- Publication type:
- Article
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 403, doi. 10.1002/humu.23938
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- Publication type:
- Article
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <italic>TNNT3</italic> splice variant.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 383, doi. 10.1002/humu.23385
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- Publication type:
- Article
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 517, doi. 10.1002/humu.23203
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- Publication type:
- Article
A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1599, doi. 10.1002/ajmg.a.63170
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- Publication type:
- Article