Suchergebnisse - "Hu, Ping"

PubPharm (21)

1

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

2

A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability : A Chinese Case Report

enthalten in: Frontiers in genetics | 2019

von Qiao, F. | Shao, B. | Wang, C. | +6

3

Small intestinal hemangioma : Endoscopic or surgical intervention? A case report and review of literature

enthalten in: World journal of gastrointestinal oncology | 2018

von Hu, P. | Chen, H. | Wang, X. | +3

4

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

5

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

6

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

7

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

8

Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion

enthalten in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2015

von Pan, Q. | Hu, P. | Ou, J. | +6

9

Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing

enthalten in: BMC medical genetics | 2015

von Ji, X. | Liang, D. | Sun, R. | +5

10

Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing

enthalten in: Gene | 2014

von Ma, D. | Ge, H. | Li, X. | +12