Lulu X. Yan

Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene

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

Published: August 28, 2026

Clinical and genetic analysis of a child with Relapsing encephalopathy with cerebellar ataxia due to variant of ATP1A3 gene

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

Published: July 01, 2026

Prenatal diagnosis and genetics analysis of a fetus with type 27 intellectual disability syndrome due to variant of SRRM2 gene

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

Published: June 24, 2026

Clinical characteristics and genetic analysis of three fetuses with Baraitser-Winter cerebrofrontofacial syndrome and Dystonia-deafness syndrome type 1 due to variants of ACTB gene

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

Published: May 06, 2026

Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene

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

Published: May 06, 2026

A fetus with Neurodevelopmental disorders with deformed facial features and distal skeletal abnormalities due to a rare variant of ZMIZ1 gene and literature review

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

Published: April 01, 2026

Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant

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

Published: March 11, 2026

Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene

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

Published: March 11, 2026

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M.

Journal: BMC medical genomics

Published: January 12, 2026

Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene

Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene

Clinical and genetic analysis of a child with Relapsing encephalopathy with cerebellar ataxia due to variant of ATP1A3 gene

Clinical and genetic analysis of a child with Relapsing encephalopathy with cerebellar ataxia due to variant of ATP1A3 gene

Prenatal diagnosis and genetics analysis of a fetus with type 27 intellectual disability syndrome due to variant of SRRM2 gene

Prenatal diagnosis and genetics analysis of a fetus with type 27 intellectual disability syndrome due to variant of SRRM2 gene

Clinical characteristics and genetic analysis of three fetuses with Baraitser-Winter cerebrofrontofacial syndrome and Dystonia-deafness syndrome type 1 due to variants of ACTB gene

Clinical characteristics and genetic analysis of three fetuses with Baraitser-Winter cerebrofrontofacial syndrome and Dystonia-deafness syndrome type 1 due to variants of ACTB gene

Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene

Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene

A fetus with Neurodevelopmental disorders with deformed facial features and distal skeletal abnormalities due to a rare variant of ZMIZ1 gene and literature review

A fetus with Neurodevelopmental disorders with deformed facial features and distal skeletal abnormalities due to a rare variant of ZMIZ1 gene and literature review

Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant

Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant

Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene

Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M.

A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M.

Analysis of clinical phenotypes and genotypic characteristics in children with epilepsy

Analysis of clinical phenotypes and genotypic characteristics in children with epilepsy

Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.

Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.

Clinical phenotype and genetic analysis of a fetus with a novel mutation of OTX2 gene

Clinical phenotype and genetic analysis of a fetus with a novel mutation of OTX2 gene