Found: 12
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A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 3, p. 167, doi. 10.1159/000496553
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- Article
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
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- NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00674-y
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- Article
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 916, doi. 10.1002/jimd.12368
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- Article
The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase deficiency (VLCADD).
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1169, doi. 10.1007/s10545-018-0245-5
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- Article
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1169, doi. 10.1007/s10545-018-0245-5
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- Publication type:
- Article
Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.
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- Human Molecular Genetics, 2022, v. 31, n. 1, p. 10, doi. 10.1093/hmg/ddab196
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- Article
Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients.
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- NPJ Precision Oncology, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41698-023-00457-x
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- Article
Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.
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- Diagnostics (2075-4418), 2021, v. 11, n. 5, p. 749, doi. 10.3390/diagnostics11050749
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- Article
Säugling mit beidseitiger Hornhauttrübung und Aniridie.
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- Der Ophthalmologe, 2020, v. 117, n. 11, p. 1126, doi. 10.1007/s00347-020-01051-3
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- Article
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
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- Genes, 2021, v. 13, n. 6, p. 879, doi. 10.3390/genes12060879
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- Article
A yeast artificial chromosome contig on mouse chromosome 11 encompassing the nu locus.
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- European Journal of Immunology, 1994, v. 24, n. 7, p. 1721, doi. 10.1002/eji.1830240742
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- Article
Intracerebral hemorrhage in a young man.
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- Canadian Medical Association Journal (CMAJ), 2011, v. 183, n. 1, p. E61, doi. 10.1503/cmaj.091496
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- Article