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Lijun Fan

Capital Medical University

12

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22

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One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

2021 Orphanet Journal of Rare Diseases
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Clinical and genetic analysis of Noonan syndrome in 20 children

2021 Chinese journal of pediatrics
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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

2021 Journal of Genetics and Genomics
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Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.

2021 Frontiers in Endocrinology
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Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance.

2020 Frontiers in Endocrinology
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Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.

2020 Orphanet Journal of Rare Diseases
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Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children

2019 Orphanet Journal of Rare Diseases
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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations

2018 Frontiers in Pharmacology
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