Found: 14
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Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2466, doi. 10.3390/jcm9082466
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- Article
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
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- Journal of Human Genetics, 2015, v. 60, n. 4, p. 221, doi. 10.1038/jhg.2015.6
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- Publication type:
- Article
SUMMIT.
- Published in:
- Médecine Sciences, 2018, v. 34, n. 11, p. 910, doi. 10.1051/medsci/2018232
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- Publication type:
- Article
Altérations du PRC2 au sein des tumeurs malignes associées à la neurofibromatose de type 1: des cellules de Schwann sans aucun complexe!
- Published in:
- Médecine Sciences, 2014, v. 30, n. 8/9, p. 733, doi. 10.1051/medsci/20143008006
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- Publication type:
- Article
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 596, doi. 10.1038/ejhg.2014.145
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- Publication type:
- Article
NF1 mutations identify molecular and clinical subtypes of lung adenocarcinomas.
- Published in:
- Cancer Medicine, 2019, v. 8, n. 9, p. 4330, doi. 10.1002/cam4.2175
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- Publication type:
- Article
Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155009
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- Publication type:
- Article
Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.
- Published in:
- Genes, Chromosomes & Cancer, 2017, v. 56, n. 5, p. 421, doi. 10.1002/gcc.22446
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- Publication type:
- Article
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.
- Published in:
- Nature, 2014, v. 514, n. 7521, p. 247, doi. 10.1038/nature13561
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- Publication type:
- Article
Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.926290
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- Publication type:
- Article
Relevance of MPNST cell lines as models for NF1 associated-tumors.
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- 2013
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- Publication type:
- Letter
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1510, doi. 10.1002/humu.22392
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- Publication type:
- Article
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
- Published in:
- Genes, 2022, v. 13, n. 11, p. 2027, doi. 10.3390/genes13112027
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- Publication type:
- Article
MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-473
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- Publication type:
- Article