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1Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications
المصدر: Clinical genetics. 90(5)
مصطلحات موضوعية: Chromosome Aberrations, Chromosomes, Human, Pair 13, Trisomy 13 Syndrome, Chromosomes, Human, Pair 21, DNA, Single-Stranded, High-Throughput Nucleotide Sequencing, Chromosome Disorders, Trisomy, Segmental Duplications, Genomic, Pregnancy, Karyotyping, Prenatal Diagnosis, Humans, Female, Down Syndrome, Chromosomes, Human, Pair 18, Trisomy 18 Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1326ef08c85cab84277839ed311fec5bTest
https://pubmed.ncbi.nlm.nih.gov/26948280Test -
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المؤلفون: S, Zeng, J, Zeng, M, He, X, Zeng, Y, Zhou, Z, Liu, K, Xia, Q, Pan, H, Jiang, L, Shen, X, Yan, B, Tang, J, Wang
المصدر: Clinical genetics. 90(2)
مصطلحات موضوعية: Adult, Male, China, Heterozygote, Spastic Paraplegia, Hereditary, Amyotrophic Lateral Sclerosis, Homozygote, Gene Expression, Nuclear Proteins, Middle Aged, Introns, Pedigree, Phenotype, Segmental Duplications, Genomic, Gene Frequency, Humans, Spinocerebellar Ataxias, Female, Age of Onset, Alleles, Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::bcf6ddb4cd937047a8863d91c7c80667Test
https://pubmed.ncbi.nlm.nih.gov/26661328Test