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Publications by Han Saem Choi
A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1
Annals of Pediatric Endocrinology and Metabolism
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Effect of Agricultural Pesticide on Precocious Puberty in Urban Children: An Explorative Study
Clinical and Experimental Pediatrics
Related publications
Rapid Whole Genome Sequencing Identifies a Novel AIRE Variant Associated With Autoimmune Polyendocrine Syndrome Type 1
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
A Novel AIRE Gene Mutation in a Patient With Autoimmune Polyendocrinopathy Candidiasis and Ectodermal Dystrophy Revealed by Alopecia Areata
JAAD Case Reports
Dermatology
Congenital Dyserythropoietic Anemia Type 1: A Case With Novel Compound Heterozygous Mutations in the C15orf41 Gene
American Journal of Hematology
Hematology
Precocious Presentation of Autoimmune Polyglandular Syndrome Type 2 Associated With an AIRE Mutation
Hormones
Medicine
Endocrinology
Metabolism
Diabetes
Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
A Novel Compound Heterozygous Stxbp2 Mutation in a Case With Familial Hemophagocytic Lymphohistiocytosis
Turkish Journal of Pediatric Disease
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient With Female External Genitalia
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
A Compound Heterozygous Mutation of Lipase Maturation Factor 1 Is Responsible for Hypertriglyceridemia of a Patient
Journal of Atherosclerosis and Thrombosis
Biochemistry
Internal Medicine
Cardiovascular Medicine
Cardiology
A Prenatally Diagnosed Case of Meckel-Gruber Syndrome With Novel Compound Heterozygous Pathogenic Variants in the TXNDC15 Gene
Molecular genetics & genomic medicine
Genetics
Molecular Biology