Detalles de la búsqueda
1.
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.
Am J Med Genet A
; 194(4): e63491, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38057991
2.
Genetic etiology of agenesis of the corpus callosum: a retrospective single-center cohort analysis of 114 fetuses.
Arch Gynecol Obstet
; 310(1): 181-194, 2024 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-38782764
3.
Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.
Clin Genet
; 103(5): 596-602, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36650939
4.
Anemia Is Associated with Disease Severity, Hepatic Complications, and Progression of Wilson Disease: A Retrospective Cohort Study.
Dig Dis
; 41(4): 632-640, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37019089
5.
Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans.
BMC Pregnancy Childbirth
; 23(1): 593, 2023 Aug 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37598172
6.
Coordination-Driven Self-Assembly of Iron Oxide Nanoparticles for Tumor Microenvironment-Responsive Magnetic Resonance Imaging.
Anal Chem
; 94(45): 15578-15585, 2022 11 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36326828
7.
Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient.
Genet Res (Camb)
; 2022: 5611697, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35919035
8.
Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings.
Hum Genomics
; 14(1): 26, 2020 06 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-32600475
9.
[A review on the status quo and implementation methods of ethics education in standardized training for resident doctors in medical genetics department].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(11): 1037-1040, 2021 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34729738
10.
Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.
Clin Genet
; 98(4): 396-401, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32681648
11.
Multifunctional N,S co-doped carbon dots for sensitive probing of temperature, ferric ion, and methotrexate.
Anal Bioanal Chem
; 411(8): 1647-1657, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30707268
12.
Robot-assisted surgery in gynaecology.
Cochrane Database Syst Rev
; 4: CD011422, 2019 04 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30985921
13.
[Application of copy number variation sequencing for prenatal diagnosis in women at an advanced maternal age].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(6): 533-537, 2019 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31055799
14.
Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing.
Am J Obstet Gynecol
; 219(3): 287.e1-287.e18, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29852155
15.
[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 35(4): 498-501, 2018 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30098242
16.
[Application of chromosomal microarray analysis in prenatal diagnosis for fetal abnormalities detected by ultrasonography].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(3): 317-320, 2017 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28604946
17.
[Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(2): 169-172, 2017 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28397211
18.
[Clinical Application of Chromosomal Microarray Analysis in Karyotyping with Uncertain Genomic Rearrangement].
Sichuan Da Xue Xue Bao Yi Xue Ban
; 48(3): 460-463, 2017 May.
Artículo
en Zh
| MEDLINE | ID: mdl-28616926
19.
A rare complex rearrangement in the ß-globin gene cluster causing a novel homozygous G γ(A γδß)0 -thalassemia.
Am J Hematol
; 96(6): E189-E193, 2021 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33651897
20.
[Analysis of heterozygous duplication of PMP22 gene in a pedigree affected with Charcot Marie Tooth disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 33(5): 649-52, 2016 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-27577214