Suchergebnisse - "Hu, Ping"

PubPharm (23)

1

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation

enthalten in: Molecular genetics & genomic medicine | 2023

von Zhang, Q. | Wang, Y. | Zhou, J. | +6

2

Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis

enthalten in: American journal of obstetrics and gynecology | 2023

von Hu, P. | Zhang, Q. | Cheng, Q. | +9

3

Genetic analysis of a fetus with mosaic trisomy 12 and severe heart defects 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 Yin, T. | Wang, Z. | Tan, J. | +4

4

A rare coronary anomaly : The single left coronary artery with coronary artery fistula draining into the right ventricular outflow tract

enthalten in: Echocardiography (Mount Kisco, N.Y.) | 2023

von Wang, J. | Hu, P. | Ku, L. | +2

5

Proline-rich transmembrane protein 2 specifically binds to GluA1 but has no effect on AMPA receptor-mediated synaptic transmission

enthalten in: Journal of clinical laboratory analysis | 2022

von Feng, H. | Qiao, F. | Tan, J. | +4

6

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing

enthalten in: Molecular genetics & genomic medicine | 2019

von Qiao, F. | Wang, C. | Luo, C. | +5

7

Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease : a case report

enthalten in: BMC medical genetics | 2018

von Liu, G. | Ma, D. | Cheng, J. | +7

8

Generation of integration-free induced pluripotent stem cell line (NJMUi001-A) from a phenylketonuria patient

enthalten in: Stem cell research | 2017

von Xu, T. | Liang, D. | Zhang, J. | +7

9

Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B

enthalten in: Taiwanese journal of obstetrics & gynecology | 2017

von Hu, P. | Qiao, F. | Yuan, Y. | +12

10

Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome

enthalten in: Gene | 2015

von Cheng, J. | Ma, D. | Wu, Y. | +6