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Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.640992
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- Article
When a vesicular placenta meets a live fetus: case report of twin pregnancy with a partial hydatidiform mole.
- Published in:
- 2021
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- Publication type:
- journal article
Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2284, doi. 10.1002/ajmg.a.38284
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- Article
A novel <italic>TEX11</italic> mutation induces azoospermia: a case report of infertile brothers and literature review.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0570-4
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- Article
Application of SNPs with low minor allele frequencies in missing person identification (MPI) through kinship analysis of DNA mixtures.
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- Electrophoresis, 2023, v. 44, n. 19/20, p. 1569, doi. 10.1002/elps.202300111
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- Article
Noninvasive prenatal paternity testing by maternal plasma DNA sequencing in twin pregnancies.
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- Electrophoresis, 2020, v. 41, n. 12, p. 1095, doi. 10.1002/elps.202000036
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- Article
A microhap panel for kinship analysis through massively parallel sequencing technology.
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- Electrophoresis, 2020, v. 41, n. 3/4, p. 246, doi. 10.1002/elps.201900337
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- Article
An SNP panel for the analysis of paternally inherited alleles in maternal plasma using ion Torrent PGM.
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- International Journal of Legal Medicine, 2018, v. 132, n. 2, p. 343, doi. 10.1007/s00414-017-1594-6
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- Article
Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study.
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- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-023-00664-y
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- Article
Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects.
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- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00544-3
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- Article
Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?
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- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0443-3
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- Article
Prenatal diagnosis of Pallister‐Killian syndrome in one twin.
- Published in:
- 2018
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- Case Study
Individual heavy metal exposure and birth outcomes in Shenqiu county along the Huai River Basin in China.
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- Toxicology Research, 2018, v. 7, n. 3, p. 444, doi. 10.1039/c8tx00009c
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- Article
Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.
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- Molecular Medicine Reports, 2017, v. 16, n. 5, p. 6837, doi. 10.3892/mmr.2017.7438
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- Article
Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature.
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- Molecular Medicine Reports, 2016, v. 14, n. 6, p. 5134, doi. 10.3892/mmr.2016.5864
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- Article
DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.
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- Clinical Genetics, 2019, v. 95, n. 5, p. 590, doi. 10.1111/cge.13525
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- Article
DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella.
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- Annals of Human Genetics, 2020, v. 84, n. 3, p. 271, doi. 10.1111/ahg.12369
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- Article
Comprehensive Genome Profiling of Single Sperm Cells by Multiple Annealing and Looping-Based Amplification Cycles and Next-Generation Sequencing from Carriers of Robertsonian Translocation.
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- Annals of Human Genetics, 2017, v. 81, n. 2, p. 91, doi. 10.1111/ahg.12187
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- Article
A child with a novel DDX3X variant mimicking cerebral palsy: a case report.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00850-3
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- Article
Clinical value of genetic analysis in prenatal diagnosis of short femur.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.978
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- Article
EIF4G1 is a novel candidate gene associated with severe asthenozoospermia.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.807
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- Article
Noninvasive prenatal paternity testing using targeted massively parallel sequencing.
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- 2018
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- Publication type:
- journal article
Noninvasive fetal genotyping of paternally inherited alleles using targeted massively parallel sequencing in parentage testing cases.
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- 2017
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- Case Study
Scratch detection of magnetron-sputtered parts based on machine vision.
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- Electroplating & Finishing, 2022, v. 41, n. 18, p. 1327, doi. 10.19289/j.1004-227x.2022.18.011
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- Article
Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions.
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- 2018
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- Publication type:
- journal article
Cover Image, Volume 38, Issue 6.
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- Prenatal Diagnosis, 2018, v. 38, n. 6, p. i, doi. 10.1002/pd.5284
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- Article
Unusual twinning: Additional findings during prenatal diagnosis of twin zygosity by single nucleotide polymorphism (SNP) array.
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- 2018
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- journal article
Chromosomal aberrations and CNVs in twin fetuses with cardiovascular anomalies: Comparison between monochorionic diamniotic and dichorionic diamniotic twins.
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- 2018
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- Publication type:
- journal article
Cover Image, Volume 38, Issue 2.
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- Prenatal Diagnosis, 2018, v. 38, n. 2, p. i, doi. 10.1002/pd.5221
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- Article
Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia.
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- 2018
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- Publication type:
- journal article
Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction.
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- 2016
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- Publication type:
- journal article
Integrative profiling of extrachromosomal circular DNA in placenta and maternal plasma provides insights into the biology of fetal growth restriction and reveals potential biomarkers.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1128082
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- Article
Evaluation of a Microhaplotype-Based Noninvasive Prenatal Test in Twin Gestations: Determination of Paternity, Zygosity, and Fetal Fraction.
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- Genes, 2021, v. 12, n. 1, p. 26, doi. 10.3390/genes12010026
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- Article
Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.
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- Molecular Syndromology, 2016, v. 6, n. 6, p. 268, doi. 10.1159/000443942
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- Publication type:
- Article