E-LIB Suche - Ergebnisse für: Luo, Jingsi

1

Appropriate whole genome amplification and pathogenic loci ..:

Lan, Yueyun ; Zhou, Hong ; He, Sheng...
Frontiers in Endocrinology. 14 (2024) - p. , 2024

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

2

Novel germline variants in KMT2C in Chinese patients with K..:

Yang, Qi ; Zhang, Qiang ; Yi, Sheng...
Frontiers in Neurology. 15 (2024) - p. , 2024

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

3

A genetic variant in the MAST1 gene is associated with mega..:

Yi, Sheng ; Tang, Xianglian ; Chen, Fei...
Molecular Genetics & Genomic Medicine. 12 (2024) 1 - p. , 2024

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

4

A novel variant in NSUN2 causes intellectual disability in ..:

Yang, Qi ; Zhang, Qiang ; Qin, Zailong..
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

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

5

A nonsense CC2D1A variant is associated with congenital ano..:

Yi, Sheng ; Tang, Xianglian ; Zhang, Qiang...
Heliyon. 10 (2024) 6 - p. e27946 , 2024

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

6

Novel variants in TNRC6B cause global developmental delay w..:

Yang, Qi ; Ou, Shan ; Zhou, Xunzhao...
Molecular Genetics & Genomic Medicine. 12 (2024) 2 - p. , 2024

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

7

Clinical features and molecular genetic investigation of in..:

Zhang, Qiang ; Yang, Qi ; Luo, Jingsi...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024

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

8

Compound heterozygous WDR19 variants associated with nephro..:

Tang, Xianglian ; Yi, Sheng ; Qin, Zailong...
Heliyon. 10 (2024) 1 - p. e23257 , 2024

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

9

Clinical and genetic analysis of trichohepatoneurodevelopme..:

Yang, Qi ; Zhou, Xunzhao ; Ling, Yeying...
Heliyon. 10 (2024) 6 - p. e27955 , 2024

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

10

Novel compound heterozygous variants in the RPL3L gene caus..:

Yang, Qi ; Zhang, Qiang ; Qin, Zailong...
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

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

11

WITHDRAWN: Effects of pH on Ochrobactrum immobilises heavy ..:

Lv, Lieyang ; Yang, Meiqi ; Yang, Kaijie...
Environmental Technology & Innovation. 29 (2023) - p. 102957 , 2023

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

12

Genetic Basis of Congenital Central Hypothyroidism in Child..:

Fu, Chunyun ; Luo, Jingsi ; Su, Jiasun...
International Journal of General Medicine. 16 (2023) - p. 3355-3362 , 2023

Link: https://doi.org/10.2147/..

13

Detection of gonosomal mosaicism by ultra‐deep sequencing a..:

Xie, Yanshu ; Luo, Jingsi ; Zhong, Jingzi...
Molecular Genetics & Genomic Medicine. 11 (2023) 6 - p. , 2023

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

14

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

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

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

15

Case report: A de novo NSD2 truncating variant in a child w..:

Yang, Qi ; Gong, Di ; Yi, Shang..
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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