Detalhe da pesquisa
1.
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Am J Hum Genet
; 105(5): 996-1004, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587869
2.
Thigh MRI in antisynthetase syndrome, and comparisons with dermatomyositis and immune-mediated necrotizing myopathy.
Rheumatology (Oxford)
; 62(1): 310-320, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512205
3.
[Clinical and genetic analysis of three children with 22q13 deletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(7): 680-684, 2022 Jul 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35810420
4.
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
J Hum Genet
; 66(8): 761-768, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597727
5.
A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images.
BMC Neurol
; 21(1): 13, 2021 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33430797
6.
Comparison of the Efficacy and Safety of the American Thyroid Association Guidelines and American College of Radiology TI-RADS.
Endocr Pract
; 27(7): 661-667, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34250908
7.
Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
Dev Med Child Neurol
; 62(10): 1213-1220, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686847
8.
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
BMC Med Genet
; 20(1): 80, 2019 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31088393
9.
FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.
J Hum Genet
; 64(9): 919-926, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273321
10.
The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.
Brain
; 145(12): e122-e124, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083980
11.
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.
Metab Brain Dis
; 32(4): 1123-1131, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28397151
12.
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
J Hum Genet
; 61(8): 753-9, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193224
13.
Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy.
Muscle Nerve
; 54(6): 1072-1079, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27251469
14.
Magnetic resonance imaging changes of thigh muscles in myopathy with antibodies to signal recognition particle.
Rheumatology (Oxford)
; 54(6): 1017-24, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25417246
15.
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
Brain
; 141(5): e36, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29444210
16.
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
Mol Genet Genomics
; 288(7-8): 297-308, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23689641
17.
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.
J Hum Genet
; 58(4): 183-8, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23364391
18.
Identiï¬cation of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
Minerva Pediatr (Torino)
; 75(1): 32-38, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27057822
19.
Comparison of Targeted Biopsy and Combined Biopsy to Avoid Unnecessary Systematic Biopsy in Patients with PI-RADS 5 Lesions.
Biomedicines
; 11(12)2023 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137384
20.
[Mitochondrial respiratory chain complex I deficiency due to 10191T>C mutation in ND3 gene].
Zhongguo Dang Dai Er Ke Za Zhi
; 14(8): 561-6, 2012 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-22898272