Possible common mutations in the low density lipoprotein receptor gene in Chinese

Assessment of SARS-CoV-2 Immunity in Convalescent Children and Adolescents.

Frontiers in immunology·2022

Association of Optical Coherence Tomography Angiography Metrics With Detection of Impaired Macular Microvasculature and Decreased Vision in Amblyopic Eyes: The Hong Kong Children Eye Study.

JAMA ophthalmology·2020

Isolation and identification of bioactive substance 1-hydroxyphenazine from Pseudomonas aeruginosa and its antimicrobial activity.

Letters in applied microbiology·2020

Guidance on the management of familial hypercholesterolaemia in Hong Kong: an expert panel consensus viewpoin.

Hong Kong medical journal = Xianggang yi xue za zhi·2018

Classical galactosaemia in Chinese: A case report and review of disease incidence.

Journal of paediatrics and child health·2017

Associations of the CYP3A53 and CYP3A41G polymorphisms with the pharmacokinetics of oral midazolam and the urinary 6β-hydroxycortisol/cortisol ratio as markers of CYP3A activity in healthy male Chinese.

Journal of clinical pharmacy and therapeutics·2016

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Human mutation·2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Human mutation·2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Human mutation·2026

CDKN3, PKP2, ADM, MS4A1, FAM83A, and DKK1 Define a Posttranslational Modification (PTM)-Associated Prognostic Model for Lung Adenocarcinoma.

Human mutation·2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.

Human mutation·2026

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss.

Human mutation·2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Therapeutic advances in rare disease·2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Journal of human genetics·2026

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Science (New York, N.Y.)·2026

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Possible common mutations in the low density lipoprotein receptor gene in Chinese

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Assessment of SARS-CoV-2 Immunity in Convalescent Children and Adolescents.

Association of Optical Coherence Tomography Angiography Metrics With Detection of Impaired Macular Microvasculature and Decreased Vision in Amblyopic Eyes: The Hong Kong Children Eye Study.

Isolation and identification of bioactive substance 1-hydroxyphenazine from Pseudomonas aeruginosa and its antimicrobial activity.

Guidance on the management of familial hypercholesterolaemia in Hong Kong: an expert panel consensus viewpoin.

Classical galactosaemia in Chinese: A case report and review of disease incidence.

Associations of the CYP3A53 and CYP3A41G polymorphisms with the pharmacokinetics of oral midazolam and the urinary 6β-hydroxycortisol/cortisol ratio as markers of CYP3A activity in healthy male Chinese.

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

CDKN3, PKP2, ADM, MS4A1, FAM83A, and DKK1 Define a Posttranslational Modification (PTM)-Associated Prognostic Model for Lung Adenocarcinoma.

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss.

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Related Experiment Videos

Possible common mutations in the low density lipoprotein receptor gene in Chinese

Related Concept Videos

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