Detalhe da pesquisa
1.
Incontinentia pigmenti in a male infant and a proposed diagnostic algorithm.
Clin Exp Dermatol
; 47(7): 1366-1368, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35267209
2.
Massively parallel sequencing analysis of nondegraded and degraded DNA mixtures using the ForenSeq™ system in combination with EuroForMix software.
Int J Legal Med
; 133(1): 25-37, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30374565
3.
Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening.
J Pediatr
; 190: 124-129.e1, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28711173
4.
Erratum to: Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia.
Hum Genet
; 135(5): 587, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27041535
5.
Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia.
Hum Genet
; 135(4): 363-376, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26875094
6.
Resolving the ancestry of Austronesian-speaking populations.
Hum Genet
; 135(3): 309-26, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26781090
7.
Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction and a favorable fetal outcome in a pregnancy.
Taiwan J Obstet Gynecol
; 62(3): 457-460, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188454
8.
Fifteen non-CODIS autosomal short tandem repeat loci multiplex data from nine population groups living in Taiwan.
Int J Legal Med
; 126(4): 671-5, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22430197
9.
Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome.
Taiwan J Obstet Gynecol
; 61(4): 677-683, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779921
10.
Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq/45, X Mosaicism.
Genes (Basel)
; 13(2)2022 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205290
11.
Fourteen non-CODIS autosomal short tandem repeat loci multiplex data from Taiwanese.
Int J Legal Med
; 125(2): 219-26, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20809099
12.
Genetic analysis of eight population groups living in Taiwan using a 13 X-chromosomal STR loci multiplex system.
Int J Legal Med
; 125(1): 33-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20428882
13.
Prenatal diagnosis of partial monosomy 8p (8p23.2âpter) and partial trisomy 15q (15q21.2âqter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.
Taiwan J Obstet Gynecol
; 60(4): 775-777, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34247824
14.
Mosaic Xq duplication, or 46,X,der(X)dup(X)(q22.1q22.2)dup(X)(q25q22.3)/ 46,XX at amniocentesis in a pregnancy with a favorable outcome.
Taiwan J Obstet Gynecol
; 60(4): 778-780, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34247825
15.
Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations.
J Genet Genomics
; 48(12): 1104-1110, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34412977
16.
Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.
Taiwan J Obstet Gynecol
; 60(2): 331-334, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33678337
17.
Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus.
Taiwan J Obstet Gynecol
; 60(3): 534-539, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33966743
18.
Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
J Mol Diagn
; 23(6): 753-764, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798739
19.
Seventeen Y-chromosomal short tandem repeat haplotypes in seven groups of population living in Taiwan.
Int J Legal Med
; 124(4): 295-300, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179958
20.
Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis.
Taiwan J Obstet Gynecol
; 59(5): 728-735, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917326