Found: 28
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Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method.
- Published in:
- Scientific Reports, 2015, p. 11711, doi. 10.1038/srep11711
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- Publication type:
- Article
GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction.
- Published in:
- 2022
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- Publication type:
- journal article
Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy.
- Published in:
- 2019
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- Publication type:
- journal article
Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing?
- Published in:
- 2018
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- Publication type:
- journal article
Redefining the MED13L syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1308, doi. 10.1038/ejhg.2015.26
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- Publication type:
- Article
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 628, doi. 10.1038/ejhg.2014.141
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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
PREFACE: In silico pipeline for accurate cell-free fetal DNA fraction prediction.
- Published in:
- 2019
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- Publication type:
- journal 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
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
- Published in:
- 2016
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- Publication type:
- journal article
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 1, p. 97, doi. 10.1002/pd.4490
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- Publication type:
- Article
The Heterozygous Lemd3<sup> +/GT</sup> Mouse Is Not a Murine Model for Osteopoikilosis in Humans.
- Published in:
- Calcified Tissue International, 2009, v. 85, n. 6, p. 546, doi. 10.1007/s00223-009-9305-z
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- Publication type:
- Article
A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 32, doi. 10.1159/000356060
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- Publication type:
- Article
Expanding the Phenotype of B3GALNT2-Related Disorders.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 694, doi. 10.3390/genes13040694
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- Publication type:
- Article
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1048, doi. 10.3390/genes12071048
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- Publication type:
- Article
Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
- Published in:
- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 11, p. 1346, doi. 10.1177/10556656211050006
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- Publication type:
- Article
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 259, doi. 10.1111/cge.13874
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- Publication type:
- Article
ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113800
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- Publication type:
- Article
Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2020, v. 144, n. 8, p. 974, doi. 10.5858/arpa.2019-0010-OA
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- Publication type:
- Article
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1061, doi. 10.1007/s00439-021-02274-3
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- Publication type:
- Article
Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing.
- Published in:
- Scientific Reports, 2016, p. 31825, doi. 10.1038/srep31825
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- Publication type:
- Article
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-154
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- Publication type:
- Article
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
- Published in:
- 2013
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- Publication type:
- journal article
Stimulation of the atypical chemokine receptor 3 (ACKR3) by a small-molecule agonist attenuates fibrosis in a preclinical liver but not lung injury model.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04317-y
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- Publication type:
- Article
WisecondorX: improved copy number detection for routine shallow whole-genome sequencing.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 4, p. 1605, doi. 10.1093/nar/gky1263
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- Publication type:
- Article
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3038, doi. 10.1093/hmg/ddv053
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- Publication type:
- Article
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3104, doi. 10.1002/ajmg.a.38407
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- Publication type:
- Article
Endothelial Zeb2 preserves the hepatic angioarchitecture and protects against liver fibrosis.
- Published in:
- Cardiovascular Research, 2022, v. 118, n. 5, p. 1262, doi. 10.1093/cvr/cvab148
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- Publication type:
- Article