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Aneuploidy is frequent in heterozygous diploid and triploid hydatidiform moles
- P. Walbum
- , L. Andreasen
- & L. Sunde
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| Open Access
PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas
- Kirsi J. Rautajoki
- , Serafiina Jaatinen
- & Matti Nykter
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Article
| Open Access
Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions
- Giulio Genovese
- , Curtis J. Mello
- & Steven A. McCarroll
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Article
| Open Access
Prioritization of putatively detrimental variants in euploid miscarriages
- Silvia Buonaiuto
- , Immacolata Di Biase
- & Vincenza Colonna
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Article
| Open Access
Simple and rapid detection of common fetal aneuploidies using peptide nucleic acid probe-based real-time polymerase chain reaction
- Subeen Hong
- , Seung Mi Lee
- & Joong Shin Park
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Article
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Analysis of parental abnormal chromosomal karyotype and subsequent live births in Chinese couples with recurrent pregnancy loss
- Shan Li
- , Mei Chen
- & Peng-Sheng Zheng
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| Open Access
Micronucleus frequency in buccal mucosa cells of patients with neurodegenerative diseases
- Hauke Reimann
- , Helga Stopper
- & Henning Hintzsche
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Article
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Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
- Cristina E. Trevino
- , Aaron M. Holleman
- & Michael E. Zwick
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Article
| Open Access
Methanolic extract of Potentilla fulgens root and its ethyl-acetate fraction delays the process of carcinogenesis in mice
- Buddha Ganguly
- , Alka Chaudhary
- & Anupam Chatterjee
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Article
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Genome-wide single nucleotide polymorphism array analysis unveils the origin of heterozygous androgenetic complete moles
- Hirokazu Usui
- , Kazuhiko Nakabayashi
- & Makio Shozu
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Article
| Open Access
Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital
- Cechuan Deng
- , Qian Zhu
- & Hongqian Liu
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Article
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Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing
- Jing Wang
- , Lin Chen
- & Hongqian Liu
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Comparison of single cell sequencing data between two whole genome amplification methods on two sequencing platforms
- DaYang Chen
- , HeFu Zhen
- & Fang Chen
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Article
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Aberrant ocular architecture and function in patients with Klinefelter syndrome
- Cristin Brand
- , Michael Zitzmann
- & Peter Heiduschka
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Article
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Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?
- Umberto Valente
- , Cinzia Vinanzi
- & Andrea Garolla
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Article
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Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing
- L. F. Johansson
- , E. N. de Boer
- & B. Sikkema-Raddatz
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Article
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Micro RNAs and DNA methylation are regulatory players in human cells with altered X chromosome to autosome balance
- Shriram N. Rajpathak
- & Deepti D. Deobagkar
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Article
| Open Access
Identification of candidate genes for congenital heart defects on proximal chromosome 8p
- Tingting Li
- , Chunjie Liu
- & Rang Xu
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| Open Access
The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement
- Anders Valind
- , C. Haikal
- & David Gisselsson
Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms