| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Analysis of diagnosis and treatment of lipoblastomatosis
|
Mo, Zhiqiang
|
|
2017
|
60 |
7 |
p. 778-780
|
article
|
| 2 |
Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex
|
Bai, Dayong
|
|
2017
|
60 |
7 |
p. 763-771
|
article
|
| 3 |
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0–3)
|
Wang, Yi
|
|
2017
|
60 |
7 |
p. 700-706
|
article
|
| 4 |
Berry syndrome: a rare cardiac malformation with extra-cardiac findings
|
Li, Jingya
|
|
2017
|
60 |
7 |
p. 772-774
|
article
|
| 5 |
Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations
|
Bai, Dayong
|
|
2017
|
60 |
7 |
p. 707-713
|
article
|
| 6 |
Correlation between BRAFV600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma
|
Geng, Jiangqiao
|
|
2017
|
60 |
7 |
p. 729-738
|
article
|
| 7 |
Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma
|
Fu, Libing
|
|
2017
|
60 |
7 |
p. 721-728
|
article
|
| 8 |
Detection of mycobacterial and viral DNA in Kikuchi-Fujimoto disease: an analysis of 153 Chinese pediatric cases
|
Xu, Zhe
|
|
2017
|
60 |
7 |
p. 775-777
|
article
|
| 9 |
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma
|
Cai, Siyu
|
|
2017
|
60 |
7 |
p. 714-720
|
article
|
| 10 |
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome
|
Li, Caifeng
|
|
2017
|
60 |
7 |
p. 758-762
|
article
|
| 11 |
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome
|
Wu, Di
|
|
2017
|
60 |
7 |
p. 692-699
|
article
|
| 12 |
The challenge and promise of rare disease diagnosis in China
|
Ni, Xin
|
|
2017
|
60 |
7 |
p. 681-685
|
article
|
| 13 |
The clinical and genetic characteristics in children with mitochondrial disease in China
|
Fang, Fang
|
|
2017
|
60 |
7 |
p. 746-757
|
article
|
| 14 |
Towards efficiency in rare disease research: what is distinctive and important?
|
Jia, Jinmeng
|
|
2017
|
60 |
7 |
p. 686-691
|
article
|
| 15 |
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome
|
Qi, Zhan
|
|
2017
|
60 |
7 |
p. 739-745
|
article
|
Journal description