Found: 10
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A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2020, v. 477, n. 2, p. 309, doi. 10.1007/s00428-020-02769-w
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- Article
Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1647
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- Publication type:
- Article
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 813, doi. 10.1002/ajmg.a.61482
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- Article
Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2720, doi. 10.1002/ajmg.a.40646
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- Article
Whole Exome Sequencing in a Random Sample of North American Women with Leiomyomas Identifies MED12 Mutations in Majority of Uterine Leiomyomas.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033251
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- Article
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
- Published in:
- 2017
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- Case Study
Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1996, doi. 10.1002/ajmg.a.34106
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- Publication type:
- Article
Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 12, p. 1166, doi. 10.1002/pd.3977
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- Publication type:
- Article
Twin pregnancy with a chimeric androgenetic and biparental placenta in one twin displaying placental mesenchymal dysplasia phenotype.
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- Prenatal Diagnosis, 2005, v. 25, n. 11, p. 1048, doi. 10.1002/pd.1255
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- Publication type:
- Article
Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 150, n. 3/4, p. 253, doi. 10.1159/000458167
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- Publication type:
- Article