Shengju J. Hao

Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability.

Journal: European journal of medical genetics

Published: January 04, 2026

Genetic analysis of children with nonsyndromic sensorineural hearing loss due to novel mutations/deletions of STRC bialleles

Journal: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery

Published: December 30, 2024

Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.

Journal: Orphanet journal of rare diseases

Published: November 22, 2024

Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: April 29, 2024

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.

Journal: European journal of medical research

Published: April 19, 2024

Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China.

Journal: Clinical laboratory

Published: April 16, 2024

Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review.

Journal: Molecular genetics and metabolism reports

Published: April 15, 2024

Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: April 02, 2024

Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: April 02, 2024

Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: March 06, 2024

Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability.

Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability.

Genetic analysis of children with nonsyndromic sensorineural hearing loss due to novel mutations/deletions of STRC bialleles

Genetic analysis of children with nonsyndromic sensorineural hearing loss due to novel mutations/deletions of STRC bialleles

Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.

Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.

Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome

Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.

Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China.

Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China.

Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review.

Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review.

Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene

Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene

Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene

Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene

Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome

Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome

Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency

Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.