Found: 13
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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00464-w
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- Publication type:
- Article
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
- Published in:
- Human Reproduction, 2023, v. 38, n. 3, p. 511, doi. 10.1093/humrep/deac273
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- Publication type:
- Article
A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 5, p. 617, doi. 10.1002/aur.1396
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- Publication type:
- Article
Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 10, p. 1272, doi. 10.1002/pd.5751
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- Publication type:
- Article
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
- Published in:
- 2018
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- Publication type:
- journal article
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
- Published in:
- 2020
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- Publication type:
- journal article
Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
- Published in:
- Clinical Case Reports, 2020, v. 8, n. 6, p. 1010, doi. 10.1002/ccr3.2780
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- Publication type:
- Article
Metabolic characteristics of women who developed ovarian hyperstimulation syndrome.
- Published in:
- 2002
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- Publication type:
- journal article
Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1204793
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- Publication type:
- Article
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00246-0
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- Publication type:
- Article
A family with a novel TSH receptor activating germline mutation (p.Ala485Val).
- Published in:
- 2008
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- Publication type:
- journal article
Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 91, doi. 10.1002/humu.20604
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- Publication type:
- Article
Evaluation of a new generation of plastic evacuated blood-collection tubes in clinical chemistry, therapeutic drug monitoring, hormone and trace metal analysis.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2004, v. 42, n. 1, p. 67, doi. 10.1515/CCLM.2004.013
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- Publication type:
- Article