Found: 12
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Expanding the genotypic spectrum of ACTG2-related visceral myopathy.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006085
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- Article
Clinical utility of ultra-rapid wholegenome sequencing in an infant with atypical presentation of WT1- associated nephrotic syndrome type 4.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005470
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- Article
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
- Published in:
- Science Translational Medicine, 2019, v. 11, n. 489, p. N.PAG, doi. 10.1126/scitranslmed.aat6177
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- Article
Contribution of <i>FKBP5</i> Genetic Variation to Gemcitabine Treatment and Survival in Pancreatic Adenocarcinoma.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070216
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- Article
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31446-6
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- Article
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31446-6
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- Publication type:
- Article
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00410-2
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- Article
Best practices for the interpretation and reporting of clinical whole genome sequencing.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z
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- Article
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
- Published in:
- JAMA: Journal of the American Medical Association, 2023, v. 330, n. 2, p. 161, doi. 10.1001/jama.2023.9350
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- Article
Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 305, doi. 10.1002/humu.24330
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- Article
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2126, doi. 10.1002/ajmg.a.62185
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- Article
ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 157, doi. 10.1002/ajmg.a.61936
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- Publication type:
- Article