E-LIB Suche - Ergebnisse für: Zhou, Bingbo

1

Analysis of spinal muscular atrophy carrier screening resul..:

Zhou, Bing-bo ; Chen, Xue ; Zhang, Chuan...
Frontiers in Neurology. 15 (2024) - p. , 2024

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

2

Mutation spectrum of hearing loss patients in Northwest Chi..:

Ma, Panpan ; Zhou, Bingbo ; Kang, Qichao...
Molecular Genetics & Genomic Medicine. 12 (2024) 6 - p. , 2024

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

3

The spectrum of phenylalanine hydroxylase variants and geno..:

Zhang, Chuan ; Zhang, Pei ; Yan, Yousheng...
Human Genomics. 17 (2023) 1 - p. , 2023

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

4

Genetic analysis and literature review of a Poirier–Bienven..:

Li, Danyang ; Zhou, Bingbo ; Tian, Xinyuan...
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

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

5

Novel de novo mutation in ZBTB20 in a Chinese Primrose synd..:

Li, Jiayi ; Zhang, Chuan ; Tian, Xinyuan...
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

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

6

Identification of deep intronic variants of PAH in phenylke..:

Zhang, Chuan ; Yan, Yousheng ; Zhou, Bingbo...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

7

Immune skeletal dysplasia with neurodevelopmental abnormali..:

Tian, Xinyuan ; Zhang, Xiaoni ; Zhang, Qinghua...
Molecular Genetics & Genomic Medicine. 12 (2023) 1 - p. , 2023

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

8

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-..:

Wang, Yupei ; Zhang, Chuan ; Zhou, Bingbo...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

9

The Mutation Analysis of the AMT Gene in a Chinese Family W..:

Zhou, Bing-bo ; Hui, Ling ; Zhang, Qing-hua...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

10

Case Report: A Novel GJB2 Missense Variant Inherited From t..:

Tian, Xinyuan ; Zhang, Chuan ; Zhou, Bingbo...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

11

Identification of a novel ANK1 mutation in hereditary spher..:

Zhang, Qinghua ; Zhang, Chuan ; Wang, Yupei...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022

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

12

Detailed pedigree analyses and prenatal diagnosis for a fam..:

Zhang, Chuan ; Hao, Shengju ; Meng, ZhaoYan...
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

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

13

Case Report: A Novel De Novo Missense Mutation of the GRIA2..:

Zhou, Bingbo ; Zhang, Chuan ; Zheng, Lei...
Frontiers in Genetics. 12 (2021) - p. , 2021

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

14

Mutation analysis of TCOF1 gene in Chinese Treacher Collins..:

Zhang, Chuan ; An, Lisha ; Xue, Huiqin...
Journal of Clinical Laboratory Analysis. 35 (2020) 1 - p. , 2020

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

15

Maternal UPD of chromosome 7 in a patient with Silver‐Russe..:

Zhang, Chuan ; Hao, Shengju ; Zhang, Qinghua...
Journal of Clinical Laboratory Analysis. 34 (2020) 9 - p. , 2020

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