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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 02/2019, Volume 36, Issue 2, pp. 147 - 150
Journal Article
Experimental and Therapeutic Medicine, ISSN 1792-0981, 06/2018, Volume 15, Issue 6, pp. 5107 - 5112
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. It has... 
CGG repeat | Nested polymerase chain reaction | Fragile X syndrome | FMR1 | MEDICINE, RESEARCH & EXPERIMENTAL | PREMUTATION | fragile X syndrome | PROTEIN EXPRESSION | DISEASE | nested polymerase chain reaction | IDENTIFICATION
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 02/2019, Volume 36, Issue 2, p. 147
To explore the molecular basis for an individual with postnatal deafness and provide genetic counseling for her family. Following extraction of genomic DNA... 
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 12/2017, Volume 34, Issue 6, p. 857
To determine the origin of a supernumerary small marker chromosome found in a fetus using prenatal BACs-on-Beads (BoBs) and single nucleotide polymorphism... 
Journal Article
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, ISSN 1008-9292, 05/2017, Volume 46, Issue 3, p. 256
To evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age. A total of... 
Pregnancy | Maternal Age | Cell-Free Nucleic Acids - blood | Humans | Sensitivity and Specificity | Adult | Aneuploidy | Female | Prenatal Diagnosis - methods | DNA - blood
Journal Article
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, ISSN 1008-9292, 05/2017, Volume 46, Issue 3, pp. 256 - 261
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 10/2016, Volume 33, Issue 5, pp. 682 - 685
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 08/2016, Volume 33, Issue 4, p. 501
To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the... 
Chromosome Banding | Oligonucleotide Array Sequence Analysis | Humans | Karyotyping | Female | In Situ Hybridization, Fluorescence | Polymorphism, Single Nucleotide | Wolf-Hirschhorn Syndrome - genetics | Infant, Newborn
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 08/2016, Volume 33, Issue 4, pp. 501 - 504
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 08/2015, Volume 32, Issue 4, p. 529
To explore the genetic cause for a child with mental retardation, developmental delay and multi-systemic developmental disorders by analyzing the copy number... 
Chromosome Banding | Williams Syndrome - genetics | Humans | Asian Continental Ancestry Group - genetics | Child, Preschool | Male | DNA Copy Number Variations | Williams Syndrome - diagnosis | Pedigree | China | Karyotyping | Adult | Female | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 7 - genetics
Journal Article
National Medical Journal of China, ISSN 0376-2491, 06/2014, Volume 94, Issue 23, pp. 1788 - 1790
Journal Article
Zhonghua yi xue za zhi, ISSN 0376-2491, 06/2014, Volume 94, Issue 23, p. 1788
To perform non-invasive prenatal diagnosis (NIPD) of chromosome aneuploidy by detecting free DNA in maternal peripheral plasma by massively parallel genomic... 
Genomics | Humans | Prenatal Diagnosis | Aneuploidy | Gestational Age | Sequence Analysis, DNA | Pregnancy | Chromosomes, Human, Pair 18 | DNA | Adult | Female | Fetus | High-Throughput Nucleotide Sequencing
Journal Article
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