Found: 11
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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
Attractivité du diplôme d'études supérieures de biologie médicale en 2022 chez les étudiants en médecine, quelle évolution ?
- Published in:
- Annales de Biologie Clinique, 2022, v. 80, n. 6, p. 565, doi. 10.1684/abc.2022.1769
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- Publication type:
- Article
Une translocation pas si robertsonienne !
- Published in:
- 2021
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- Correction Notice
Le diplôme d'études spécialisées de biologie médicale attire-t-il toujours autant les étudiants en médecine ? Bilan des huit dernières années.
- Published in:
- Annales de Biologie Clinique, 2018, v. 76, n. 2, p. 125, doi. 10.1684/abc.2018.1323
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- Publication type:
- Article
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01314-x
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- Publication type:
- Article
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00543-4
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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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- 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
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1882, doi. 10.1002/humu.24438
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- Publication type:
- Article
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1239, doi. 10.1002/humu.24384
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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