Digitale Bibliotheek
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                             15 gevonden resultaten
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
                             15 gevonden resultaten
 
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