Found: 14
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Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01207-5
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- Publication type:
- Article
Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00917-6
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- Publication type:
- Article
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0760-7
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- Publication type:
- Article
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63476
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- Publication type:
- Article
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy‐like lymphedema: First prenatal case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3550, doi. 10.1002/ajmg.a.62973
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- Publication type:
- Article
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3057, doi. 10.1002/ajmg.a.62361
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- Publication type:
- Article
Une translocation pas si robertsonienne !
- Published in:
- 2021
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- Publication type:
- Correction Notice
Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
- Published in:
- Andrology, 2022, v. 10, n. 8, p. 1625, doi. 10.1111/andr.13279
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- Publication type:
- Article
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1014, doi. 10.1038/ejhg.2008.89
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- Publication type:
- Article
Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 5, p. 736, doi. 10.1093/clinchem/hvaa323
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- Publication type:
- Article
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
- Published in:
- Clinical Chemistry, 2019, v. 65, n. 9, p. 1153, doi. 10.1373/clinchem.2019.304246
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- Publication type:
- Article
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.
- Published in:
- 2020
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- Publication type:
- journal article
Pitfalls in the use of DGV for CNV interpretation.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2593, doi. 10.1002/ajmg.a.34195
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- Publication type:
- Article
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
- Published in:
- 2016
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- Publication type:
- journal article