Detalles de la búsqueda
1.
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples.
J Med Genet
; 60(10): 933-938, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37012053
2.
Noninvasive Prenatal Screening for Common Fetal Aneuploidies Using Single-Molecule Sequencing.
Lab Invest
; 103(4): 100043, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36870287
3.
Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
J Gene Med
; 24(5): e3417, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35338537
4.
Novel deep intronic and frameshift mutations causing a TRIP11-related disorder.
Am J Med Genet A
; 185(8): 2482-2487, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34014608
5.
Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age.
BMC Pregnancy Childbirth
; 21(1): 86, 2021 Jan 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33499806
6.
[Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome].
Sichuan Da Xue Xue Bao Yi Xue Ban
; 52(4): 711-715, 2021 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-34323054
7.
Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.
Hum Mol Genet
; 27(21): 3787-3800, 2018 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30010909
8.
Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform.
Hum Genomics
; 13(1): 1, 2019 01 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30606250
9.
Is Noninvasive Prenatal Screening Appropriate for Pregnant Women Age 35 or Older In Cases if Isolated Fetal Nasal Bone Abnormalities in The Chinese Han Population?
Med Sci Monit
; 26: e924387, 2020 Jul 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32712620
10.
[Genetic analysis of a child with Sotos syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(2): 127-130, 2020 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32034736
11.
[Genetic diagnosis of a fetus with Dandy-Walker syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(1): 8-11, 2020 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31922586
12.
[Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 49(5): 581-585, 2020 Oct 25.
Artículo
en Zh
| MEDLINE | ID: mdl-33210483
13.
[Genetic analysis of a mosaic case with low proportion mutation of TSC2 gene].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 49(5): 586-590, 2020 Oct 25.
Artículo
en Zh
| MEDLINE | ID: mdl-33210484
14.
[Prenatal diagnosis of a fetus with Phelan-McDermid syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(8): 841-843, 2019 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31400142
15.
[Genetic analysis of a family of Van der Woude syndrome].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 378-383, 2019 06 25.
Artículo
en Zh
| MEDLINE | ID: mdl-31901040
16.
[Noninvasive prenatal screening for twin pregnancy: an analysis of 2057 cases].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 403-408, 2019 06 25.
Artículo
en Zh
| MEDLINE | ID: mdl-31901044
17.
[Single nucleotide polymorphism microarray in prenatal diagnosis of fetuses with absent nasal bone].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 414-419, 2019 06 25.
Artículo
en Zh
| MEDLINE | ID: mdl-31901046
18.
[Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 420-428, 2019 06 25.
Artículo
en Zh
| MEDLINE | ID: mdl-31901047
19.
[Genetic analysis and prenatal diagnosis of a sporadic family with neurofibromatosis type 1].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 367-372, 2019 06 25.
Artículo
en Zh
| MEDLINE | ID: mdl-31901038
20.
[Genetic analysis of a fetus with multiple malformations caused by complex translocations of four chromosomes].
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 48(4): 397-402, 2019 06 25.
Artículo
en Zh
| MEDLINE | ID: mdl-31901043