Suchergebnisse - "Ma, Jian"

PubPharm (58)

1

Novel ATF6 homozygous variant in a Chinese patient with achromatopsia

enthalten in: Ophthalmic genetics | 2024

von Wu, S. | Yu, Y. | Wang, Y. | +4

2

Spontaneous rupture‑induced life‑threatening mediastinal mixed germ cell tumor : A case report and therapeutic considerations

enthalten in: Oncology letters | 2024

von Li, X. | Xu, S. | Li, Y. | +5

3

Double counting heart rate - Littmann sign in electrocardiogram

enthalten in: Heliyon | 2024

von Wang, W. | Deng, M. | Zhai, W. | +4

4

Orbital teratoma at birth : A case report

enthalten in: Asian journal of surgery | 2024

von Ma, M. | Liu, R. | Tao, Y. | +1

5

Rapid flattening of massive hemorrhagic retinal pigment epithelial detachment secondary to polypoidal choroidal vasculopathy after surgery

enthalten in: American journal of ophthalmology case reports | 2023

von Zheng, F. | Xu, Z. | He, J. | +4

6

DCX variants in two unrelated Chinese families with subcortical band heterotopia : Two case reports and review of literature

enthalten in: Heliyon | 2023

von Gao, C. | Liu, N. | Ma, J. | +8

7

Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review

enthalten in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023

von Wang, D. | Huang, J. | Zhang, K. | +6

8

Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene

enthalten in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023

von Lyu, Y. | Song, F. | Zhang, K. | +6

9

Genetic analysis of a child with combined oxidative phosphorylation deficiency 14 due to variant of FARS2 gene

enthalten in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022

von Ma, J. | Zhang, H. | Lyu, Y. | +4

10

Analysis of TNPO3 gene variant and clinical phenotype in a neonate with limb-girdle muscular dystrophies form 1F

enthalten in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022

von Gao, M. | Hou, L. | Zhang, K. | +5

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