E-LIB Suche - Ergebnisse für: Yao, Ruen

1

Bi-allelic variants in CEP295 cause Seckel-like syndrome pr..:

Li, Niu ; Xu, Yufei ; Chen, Hongzhu...
eBioMedicine. 99 (2024) - p. 104940 , 2024

Link: https://doi.org/10.1016/..

2

Genetic variants of ABCC8 and clinical manifestations in ei..:

Chang, Guoying ; Ying, Lingwen ; Zhang, Qianwen...
BMC Endocrine Disorders. 24 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Molecular and phenotypic characteristics of Bardet-Biedl sy..:

Gao, Shiyang ; Zhang, Qianwen ; Ding, Yu...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

4

Molecular and phenotypic spectrum of cardio-facio-cutaneous..:

Feng, Biyun ; Li, Xin ; Zhang, Qianwen...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

5

Haplotype-specific MAPK3 expression in 16p11.2 deletion con..:

Liu, Fang ; Liang, Chen ; Li, Zhengchang...
Brain. , 2023

Link: https://doi.org/10.1093/..

6

Complex clinical manifestations and new insights in RNA seq..:

Ding, Yu ; Li, Zhe ; Zhang, Qianwen...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

7

Simultaneous quantification and pharmacokinetics of vincris..:

Yuan, Yawen ; Chen, Changcheng ; You, Guoling...
Journal of Pharmaceutical and Biomedical Analysis. 234 (2023) - p. 115578 , 2023

Link: https://doi.org/10.1016/..

8

A novel heterozygous variant of FOXJ1 in a Chinese female w..:

Gao, Shiyang ; Zhang, Qianwen ; Feng, Biyun...
Molecular Genetics & Genomic Medicine. 11 (2023) 9 - p. , 2023

Link: https://doi.org/10.1002/..

9

Germline Neurofibromin 1 mutation enhances the anti‐tumour ..:

Wang, Wanqiao ; Li, Xin ; Qin, Xia...
British Journal of Haematology. 202 (2023) 2 - p. 328-343 , 2023

Link: https://doi.org/10.1111/..

10

Two patients with KDM3B variants and new presentations of D..:

Zhao, Xiangyue ; Yu, Tingting ; Tang, Jie...
neurogenetics. 24 (2023) 2 - p. 95-101 , 2023

Link: https://doi.org/10.1007/..

11

Clinical and Molecular Characterization of a Patient with G..:

Yao, Ruen ; Yang, Fan ; Zhang, Qianwen...
Journal of Personalized Medicine. 14 (2023) 1 - p. 54 , 2023

Link: https://doi.org/10.3390/..

12

Identification and functional analysis of novel SOX11 varia..:

Ding, Yu ; Chen, Jiande ; Tang, Yijun...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

13

NEIL3 contributes to the Fanconi anemia/BRCA pathway by pro..:

Li, Niu ; Xu, Yufei ; Chen, Hongzhu...
Cell Reports. 41 (2022) 6 - p. 111600 , 2022

Link: https://doi.org/10.1016/..

14

Neurodevelopmental disorders and anti-epileptic treatment i..:

Yu, Ying ; Li, Cuiyun ; Li, Wei...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

15

Novel GLDC variants causing nonketotic hyperglycinemia in C..:

Zhao, Xiangyue ; Zhang, Guoqing ; Dong, Shumei...
Journal of Laboratory Medicine. 46 (2022) 5 - p. 369-375 , 2022

Link: https://doi.org/10.1515/..