Detalles de la búsqueda
1.
Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.
BMC Pediatr
; 24(1): 182, 2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38491417
2.
An Aggregation-Induced Fluorescence Probe for Detection H2S and Its Application in Cell Imaging.
Molecules
; 29(10)2024 May 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38792250
3.
RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.
Clin Genet
; 104(2): 259-265, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37092250
4.
Synthesis of 3-Thiocyanobenzothiophene via Difunctionalization of Active Alkyne Promoted by Electrochemical-Oxidation.
Chemistry
; 29(17): e202203306, 2023 Mar 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-36453091
5.
Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
Am J Med Genet A
; 191(1): 70-76, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36218002
6.
[Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(5): 537-541, 2022 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35598274
7.
[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 56-59, 2022 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34964968
8.
[Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 312-315, 2022 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35315043
9.
CNV profiles of Chinese pediatric patients with developmental disorders.
Genet Med
; 23(4): 669-678, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33402738
10.
A transgene-encoded truncated human epidermal growth factor receptor for depletion of anti- B-cell maturation antigen CAR-T cells.
Cell Immunol
; 363: 104342, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33765541
11.
[Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(1): 63-66, 2021 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33423261
12.
[Analysis of clinical manifestation and a mosaic frameshift variant of the KMT2D gene in a Chinese patient with Kabuki syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(9): 861-864, 2021 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34487531
13.
[Analysis of RUNX2 gene variant in a Chinese patient with cleidocranial dysplasia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(8): 749-752, 2021 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34365616
14.
Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia.
BMC Med Genet
; 21(1): 93, 2020 05 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32375772
15.
Aberrant expression for microRNA is potential crucial factors of haemorrhoid.
Hereditas
; 157(1): 25, 2020 Jul 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32620169
16.
Performance of Different Imaging Techniques for Detection of Para-Aortic Lymph Node Metastasis from Gynecological Malignancies: A Systematic Review and Meta-Analysis.
Gynecol Obstet Invest
; 85(1): 53-71, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-31505492
17.
[Identification of a 17q25.3 duplication in a Chinese patient with global developmental delay and multiple congenital anomalies].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(1): 52-56, 2020 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-31922597
18.
[Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(5): 567-569, 2020 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32335888
19.
A study of Love wave acoustic biosensors monitoring the adhesion process of tendon stem cells (TSCs).
Eur Biophys J
; 48(3): 249-260, 2019 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-30783690
20.
MiR-29a inhibits invasion and metastasis of cervical cancer via modulating methylation of tumor suppressor SOCS1.
Future Oncol
; 15(15): 1729-1744, 2019 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-31038361