Qiong Pan
Huai'an, China
Last Updated: 09/26/2026
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Found 17 publications
Case Report: Functional validation of a PKD1 c.7489 + 5G>A variant in an ADPKD family.
Journal: Frontiers in genetics
Published: April 09, 2026
Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases.
Journal: Scientific reports
Published: August 14, 2024
Analysis of genetic variant in a fetus featuring pontocerebellar hypoplasia type 6
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: July 11, 2021
Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia
Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 22, 2021
Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 29, 2020
Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 09, 2020
Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 10, 2018
Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 26, 2018
Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 12, 2018
Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.
Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: September 14, 2017
Genetic analysis of a mental retardation patient with a rare karyotype involving complex rearrangements of five chromosomes
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 05, 2017
Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.
Journal: American journal of obstetrics and gynecology
Published: June 14, 2017
Last Updated: 09/26/2026