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Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2124
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- Article
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2121
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- Article
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2120
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- Article
Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2116
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- Article
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2109
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- Article
A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2108
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- Article
Evaluation of rs1748195 ANGPTL3 gene polymorphism in patients with angiographic coronary artery disease compared to healthy individuals.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2105
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- Article
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2103
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- Article
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.1975
- Publication type:
- Article
Synergistic effects of PI3K inhibition and pioglitazone against acute promyelocytic leukemia cells.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2106
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- Article