Yanling Teng

Hunan Key Laboratory Of Medical Genetics & Hunan Key Laboratory Of Animal Models For Human Diseases
Changsha, China

Last Updated: 09/26/2026

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Found 34 publications

Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.

Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants.

Journal: Thrombosis research

Published: January 02, 2025

Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.

Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.

Journal: QJM : monthly journal of the Association of Physicians

Published: September 22, 2024

Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.

Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.

Journal: Scientific reports

Published: June 29, 2024

O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells.

O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells.

Journal: International journal of molecular sciences

Published: June 04, 2024

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Journal: Human genomics

Published: May 21, 2024

PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation.

PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation.

Journal: Cell death & disease

Published: May 08, 2024

Application of whole exome sequencing in carrier screening for high-risk families without probands.

Application of whole exome sequencing in carrier screening for high-risk families without probands.

Journal: Frontiers in genetics

Published: April 11, 2024

Motor patterns of patients with spinal muscular atrophy suggestive of sensory and corticospinal contributions to the development of locomotor muscle synergies.

Motor patterns of patients with spinal muscular atrophy suggestive of sensory and corticospinal contributions to the development of locomotor muscle synergies.

Journal: Journal of neurophysiology

Published: January 17, 2024

A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder.

A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder.

Journal: Cell reports

Published: June 30, 2023

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.

Journal: Frontiers in pediatrics

Published: April 14, 2023

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.

Journal: Frontiers in genetics

Published: February 24, 2023

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.

Two novel variants in CEP152 caused Seckel syndrome 5 in a Chinese family.

Journal: Frontiers in genetics

Published: September 24, 2022

Showing 1-12 of 34

Last Updated: 09/26/2026