Quanmei Xu
Shanghai, China
Last Updated: 09/26/2026
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Found 12 publications
Segawa syndrome caused by TH gene mutation and its mechanism.
Journal: Frontiers in genetics
Published: July 27, 2022
Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.
Journal: Frontiers in pediatrics
Published: July 18, 2022
Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.
Journal: Stem cell research
Published: February 13, 2022
Correlation Between Tic Disorders and Serum 25-Hydroxyvitamin D Levels in Chinese Children.
Journal: Frontiers in pediatrics
Published: December 11, 2021
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.
Journal: Internal medicine (Tokyo, Japan)
Published: June 21, 2021
Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene.
Journal: Stem cell research
Published: April 13, 2021
Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene.
Journal: Frontiers in pediatrics
Published: March 22, 2021
Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency.
Journal: Stem cell research
Published: February 06, 2021
Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome.
Journal: Stem cell research
Published: May 25, 2020
Induced pluripotent stem cells (SHCDNi002-A cells) isolated from the peripheral blood mononuclear cells of a 1-year-old Chinese girl with mediator complex subunit 12-related syndrome.
Journal: Stem cell research
Published: April 12, 2020
Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13.
Journal: Stem cell research
Published: January 21, 2020
Showing 1-12 of 12
Last Updated: 09/26/2026