Found: 16
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Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2193
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- Publication type:
- Article
Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2195
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- Article
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2190
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- Article
Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2186
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- Article
The role of vitamin D receptor and IL‐6 in COVID‐19.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2172
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- Article
Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2175
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- Article
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2167
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- Publication type:
- Article
Association between the rs2241883 polymorphism of the fatty acid‐binding protein‐1 (FABP1) gene and obesity in a population of MASHAD study cohort.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2173
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- Publication type:
- Article
Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP‐related multisystem proteinopathy.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2176
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- Article
Germline mutations in homologous recombination repair genes among Chinese pancreatic ductal adenocarcinoma patients detected using next‐generation sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2170
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- Publication type:
- Article
Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2169
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- Publication type:
- Article
Clinical outcomes of fetuses with chromosome 16 short arm copy number variants.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2174
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- Publication type:
- Article
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2166
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- Publication type:
- Article
New insights from trio whole‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2163
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- Article
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.1979
- Publication type:
- Article
Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 7, p. 1, doi. 10.1002/mgg3.2162
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- Publication type:
- Article