Detalles de la búsqueda
1.
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.
Genet Med
; 21(9): 1998-2006, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30828085
2.
Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.
Med Sci Monit
; 25: 7634-7644, 2019 Oct 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31603145
3.
Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.
J Hum Genet
; 63(7): 851-855, 2018 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-29703962
4.
Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections.
Int Heart J
; 59(5): 1059-1068, 2018 Sep 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-30101859
5.
The genetics and clinical outcomes in 151 cases of fetal growth restriction: A Chinese single-center study.
Eur J Obstet Gynecol Reprod Biol
; 298: 128-134, 2024 May 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38756052
6.
Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.
Arch Pathol Lab Med
; 148(3): 336-344, 2024 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37270807
7.
A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.
Front Pediatr
; 11: 1177137, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37593446
8.
Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth.
Front Genet
; 14: 1272028, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37920852
9.
Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.
Mol Cytogenet
; 15(1): 25, 2022 Jun 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35761312
10.
Retrospective analysis of the risk factors associated with failure in obtaining effective noninvasive prenatal test results and pregnancy outcomes: a case-control study.
Expert Rev Mol Diagn
; 22(3): 387-394, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35240898
11.
A retrospective single-center analysis of prenatal diagnosis and follow-up of 626 chinese patients with positive non-invasive prenatal screening results.
Front Genet
; 13: 965106, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36199578
12.
Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018-2020: A Retrospective Analysis.
J Pers Med
; 12(1)2022 Jan 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35055363
13.
A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.
Mol Genet Genomic Med
; 8(3): e1127, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31943912
14.
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.
Orphanet J Rare Dis
; 14(1): 45, 2019 02 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30770747
15.
Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.
Gene
; 710: 9-16, 2019 Aug 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-31112740
16.
Molecular genetic study of 59 Chinese Oculocutaneous albinism families.
Eur J Med Genet
; 62(10): 103709, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31229681
17.
Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series.
Medicine (Baltimore)
; 98(20): e15692, 2019 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-31096510
18.
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.
Biomed Res Int
; 2018: 4032543, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30581852
19.
Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.
Gene
; 669: 42-46, 2018 Aug 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-29777911
20.
Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.
Eye (Lond)
; 32(8): 1359-1364, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29695758
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