nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Analysis of diagnosis and treatment of lipoblastomatosis
|
Mo, Zhiqiang |
|
2017 |
60 |
7 |
p. 778-780 |
artikel |
2 |
Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex
|
Bai, Dayong |
|
2017 |
60 |
7 |
p. 763-771 |
artikel |
3 |
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0–3)
|
Wang, Yi |
|
2017 |
60 |
7 |
p. 700-706 |
artikel |
4 |
Berry syndrome: a rare cardiac malformation with extra-cardiac findings
|
Li, Jingya |
|
2017 |
60 |
7 |
p. 772-774 |
artikel |
5 |
Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations
|
Bai, Dayong |
|
2017 |
60 |
7 |
p. 707-713 |
artikel |
6 |
Correlation between BRAFV600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma
|
Geng, Jiangqiao |
|
2017 |
60 |
7 |
p. 729-738 |
artikel |
7 |
Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma
|
Fu, Libing |
|
2017 |
60 |
7 |
p. 721-728 |
artikel |
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 |
artikel |
9 |
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma
|
Cai, Siyu |
|
2017 |
60 |
7 |
p. 714-720 |
artikel |
10 |
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome
|
Li, Caifeng |
|
2017 |
60 |
7 |
p. 758-762 |
artikel |
11 |
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome
|
Wu, Di |
|
2017 |
60 |
7 |
p. 692-699 |
artikel |
12 |
The challenge and promise of rare disease diagnosis in China
|
Ni, Xin |
|
2017 |
60 |
7 |
p. 681-685 |
artikel |
13 |
The clinical and genetic characteristics in children with mitochondrial disease in China
|
Fang, Fang |
|
2017 |
60 |
7 |
p. 746-757 |
artikel |
14 |
Towards efficiency in rare disease research: what is distinctive and important?
|
Jia, Jinmeng |
|
2017 |
60 |
7 |
p. 686-691 |
artikel |
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 |
artikel |