Sisi Ning

Yulin, China

Last Updated: 09/26/2026

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Found 12 publications

The value of third-generation sequencing for neonatal screening of thalassemia in the Yulin region of Southern China.

The value of third-generation sequencing for neonatal screening of thalassemia in the Yulin region of Southern China.

Journal: Frontiers in genetics

Published: March 30, 2026

Correction: A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.

Correction: A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.

Journal: Frontiers in medicine

Published: February 03, 2026

A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.

A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.

Journal: Frontiers in medicine

Published: November 30, 2025

Fertility preservation in turner syndrome: a case report integrating clinical presentation with genomic and molecular mechanistic analyses.

Fertility preservation in turner syndrome: a case report integrating clinical presentation with genomic and molecular mechanistic analyses.

Journal: Journal of assisted reproduction and genetics

Published: November 23, 2025

Case Report: Prenatal diagnosis of a rare complex fetal karyotype 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat resulting from 3:1 meiotic segregation of a maternal balanced translocation.

Case Report: Prenatal diagnosis of a rare complex fetal karyotype 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat resulting from 3:1 meiotic segregation of a maternal balanced translocation.

Journal: Frontiers in reproductive health

Published: November 01, 2025

The First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.

The First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.

Journal: Hemoglobin

Published: December 18, 2024

A novel gain-of-function PIP4K2A mutation elevates the expression of β-globin and aggravates the severity of α-thalassemia.

A novel gain-of-function PIP4K2A mutation elevates the expression of β-globin and aggravates the severity of α-thalassemia.

Journal: British journal of haematology

Published: March 22, 2023

The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing.

The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing.

Journal: Gene

Published: February 24, 2023

Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases.

Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases.

Journal: Scientific reports

Published: February 22, 2023

A novel ADGRG2 truncating variant associated with X-linked obstructive azoospermia in a large Chinese pedigree.

A novel ADGRG2 truncating variant associated with X-linked obstructive azoospermia in a large Chinese pedigree.

Journal: Journal of assisted reproduction and genetics

Published: May 02, 2022

A novel rearrangement of the α-globin gene cluster containing both the -α3.7 and ααααanti4.2 crossover junctions in a Chinese family.

A novel rearrangement of the α-globin gene cluster containing both the -α3.7 and ααααanti4.2 crossover junctions in a Chinese family.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: February 16, 2022

Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.

Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.

Journal: Molecular cytogenetics

Published: February 12, 2020

Showing 1-12 of 12

Last Updated: 09/26/2026