Found: 27
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Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 2, p. 247, doi. 10.1002/pd.6419
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- Article
Identification of cryptic balanced translocations in couples with unexplained recurrent pregnancy loss based upon embryonic PGT-A results.
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- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 1, p. 171, doi. 10.1007/s10815-023-02999-2
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- Article
Decreasing the Carrier Concentration of ZrNiSn: An Opposite Way to the Best N‐Type Half‐Heusler Thermoelectrics.
- Published in:
- Small Methods, 2024, v. 8, n. 1, p. 1, doi. 10.1002/smtd.202300829
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- Article
A pilot investigation of low-pass genome sequencing identifying site-specific variation in chromosomal mosaicisms by a multiple site sampling approach in first-trimester miscarriages.
- Published in:
- Human Reproduction, 2023, v. 38, n. 8, p. 1628, doi. 10.1093/humrep/dead090
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- Article
Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1357, doi. 10.3390/genes14071357
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- Article
Fertility preservation in pediatric healthcare: a review.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1147898
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- Article
High-performance non-Fermi-liquid metallic thermoelectric materials.
- Published in:
- NPJ Computational Materials, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41524-023-01001-y
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- Article
Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.
- Published in:
- Human Genetics, 2023, v. 142, n. 3, p. 363, doi. 10.1007/s00439-022-02510-4
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- Article
TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. D1, p. D1168, doi. 10.1093/nar/gkac978
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- Article
Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1022918
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- Article
Discovery of a Slater–Pauling Semiconductor ZrRu<sub>1.5</sub>Sb with Promising Thermoelectric Properties.
- Published in:
- Advanced Functional Materials, 2022, v. 32, n. 25, p. 1, doi. 10.1002/adfm.202200438
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- Article
The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 36, doi. 10.3390/ijns8020036
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- Article
Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing.
- Published in:
- Asian Journal of Andrology, 2022, v. 24, n. 3, p. 248, doi. 10.4103/aja2021106
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- Article
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.803088
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- Article
Corrigendum: SVInterpreter: A Comprehensive Topologically Associated Domain Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Half-Heusler-like compounds with wide continuous compositions and tunable p- to n-type semiconducting thermoelectrics.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-021-27795-3
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- Publication type:
- Article
SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.757170
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- Publication type:
- Article
Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.742325
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- Publication type:
- Article
Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 478, doi. 10.3390/genes12040478
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- Article
Deciphering the complexity of simple chromosomal insertions by genome sequencing.
- Published in:
- Human Genetics, 2021, v. 140, n. 2, p. 361, doi. 10.1007/s00439-020-02210-x
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- Publication type:
- Article
Low-pass genome sequencing: a validated method in clinical cytogenetics.
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- Human Genetics, 2020, v. 139, n. 11, p. 1403, doi. 10.1007/s00439-020-02185-9
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- Publication type:
- Article
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00761
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- Publication type:
- Article
Development of coupling controlled polymerizations by adapter-ligation in mate-pair sequencing for detection of various genomic variants in one single assay.
- Published in:
- DNA Research, 2019, v. 26, n. 4, p. 313, doi. 10.1093/dnares/dsz011
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- Article
Deployment accuracy analysis of cable-strut deployable mechanism with joint clearances and forces constrained.
- Published in:
- Journal of Vibroengineering, 2018, v. 20, n. 5, p. 2085, doi. 10.21595/jve.2017.18709
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- Publication type:
- Article
An investigation of biomarkers derived from legacy microarray data for their utility in the RNA-seq era.
- Published in:
- Genome Biology, 2014, v. 15, n. 12, p. 523, doi. 10.1186/s13059-014-0523-y
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- Publication type:
- Article
A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing.
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 625, doi. 10.1002/humu.22541
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- Publication type:
- Article
Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome.
- Published in:
- Nature Biotechnology, 2012, v. 30, n. 3, p. 253, doi. 10.1038/nbt.2122
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- Article