Detalhe da pesquisa
1.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521361
2.
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Brain
; 146(8): 3347-3363, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869767
3.
Whole-exome sequencing identifies FANC heterozygous germline mutation as an adverse factor for immunosuppressive therapy in Chinese aplastic anemia patients aged 40 or younger: a single-center retrospective study.
Ann Hematol
; 102(3): 503-517, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36622392
4.
Unlabelled LRET biosensor based on double-stranded DNA for the detection of anthraquinone anticancer drugs.
Mikrochim Acta
; 191(1): 15, 2023 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087000
5.
The Partial Reconstruction Symplectic Geometry Mode Decomposition and Its Application in Rolling Bearing Fault Diagnosis.
Sensors (Basel)
; 23(17)2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37687791
6.
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
Hum Mutat
; 43(5): 568-581, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143101
7.
Circadian gene CSNK1D promoted the progression of hepatocellular carcinoma by activating Wnt/ß-catenin pathway via stabilizing Dishevelled Segment Polarity Protein 3.
Biol Proced Online
; 24(1): 21, 2022 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460966
8.
Effect of avatrombopag in the management of severe and refractory chemotherapy-induced thrombocytopenia (CIT) in patients with solid tumors.
Platelets
; 33(7): 1024-1030, 2022 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040375
9.
Apolipoprotein-A is a potential prognostic biomarker for severe aplastic anemia patients treated with ATG-based immunosuppressive therapy: a single-center retrospective study.
Lipids Health Dis
; 21(1): 93, 2022 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192750
10.
Upconversion luminescence-based aptasensor for the detection of thyroid-stimulating hormone in serum.
Mikrochim Acta
; 189(5): 179, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35386003
11.
[Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(1): 1-10, 2022 Jan 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-34964957
12.
[A large-scale retrospective analysis of copy number variations in single center using ACMG-ClinGen latest guidelines].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(8): 814-818, 2022 Aug 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-35929928
13.
The portrayal of people with dwarfism in Chinese art.
Am J Med Genet C Semin Med Genet
; 187(2): 192-198, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33982873
14.
CNV profiles of Chinese pediatric patients with developmental disorders.
Genet Med
; 23(4): 669-678, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33402738
15.
Constant-wavelength synchronous fluorescence spectrometry for simultaneous and rapid determination of five polycyclic aromatic hydrocarbon residues in dairy products.
Luminescence
; 36(2): 353-359, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959966
16.
[Experience and lessons on guiding and governing clinical applications of chromosome microarray analysis in the United States].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(5): 419-424, 2021 May 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-33974247
17.
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
Hum Genet
; 139(4): 499-512, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31980904
18.
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.
BMC Med Genet
; 21(1): 100, 2020 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393339
19.
A novel variant of IHH in a Chinese family with brachydactyly type 1.
BMC Med Genet
; 21(1): 60, 2020 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32209048
20.
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
Am J Med Genet A
; 182(4): 640-651, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883305