The clinical and genetic characteristics in children with mitochondrial disease in China.
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 746, doi. 10.1007/s11427-017-9080-y
- By:
- Publication type:
- Article
Works matching IS 16747305 AND DT 2017 AND VI 60 AND IP 7
Results: 15
1
2
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma.
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 714, doi. 10.1007/s11427-017-9081-x
- By:
- Publication type:
- Article
3
Detection of FOXO1 break-apart status by fluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma.
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 721, doi. 10.1007/s11427-017-9082-9
- By:
- Publication type:
- Article
4
Correlation between BRAF mutation and clinicopathological features in pediatric papillary thyroid carcinoma.
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 729, doi. 10.1007/s11427-017-9083-8
- By:
- Publication type:
- Article
5
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 700, doi. 10.1007/s11427-017-9084-9
- By:
- Publication type:
- Article
6
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 739, doi. 10.1007/s11427-017-9085-7
- By:
- Publication type:
- Article
7
Berry syndrome: a rare cardiac malformation with extra-cardiac findings.
- Published in:
- 2017
- By:
- Publication type:
- Letter
8
Detection of mycobacterial and viral DNA in Kikuchi-Fujimoto disease: an analysis of 153 Chinese pediatric cases.
- Published in:
- 2017
- By:
- Publication type:
- Letter
9
Analysis of diagnosis and treatment of lipoblastomatosis.
- Published in:
- 2017
- By:
- Publication type:
- Letter
10
Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations.
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 707, doi. 10.1007/s11427-017-9089-5
- By:
- Publication type:
- Article
11
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome.
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 758, doi. 10.1007/s11427-017-9090-6
- By:
- Publication type:
- Article
12
Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex.
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 763, doi. 10.1007/s11427-017-9091-x
- By:
- Publication type:
- Article
13
Towards efficiency in rare disease research: what is distinctive and important?
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 686, doi. 10.1007/s11427-017-9099-3
- By:
- Publication type:
- Article
14
The challenge and promise of rare disease diagnosis in China.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
15
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome.
- Published in:
- SCIENCE CHINA Life Sciences, 2017, v. 60, n. 7, p. 692, doi. 10.1007/s11427-017-9079-7
- By:
- Publication type:
- Article