Concepedia

Yoo‐Mi Kim

YK

32

Publications

666

Citations

16

H-Index

2003

Active since

Affiliations

Ulsan College(Current)

University of Ulsan

Asan Medical Center

Pusan National University Yangsan Hospital

Chungnam National University Hospital

Yoo‐Mi Kim is an author at Ulsan College specializing in medicine, inherited metabolic disease, and pathology.

Top concepts

MedicineInherited Metabolic DiseasePathologyGeneticsClinical GeneticsPublic HealthClinical OutcomesMolecular GeneticsMolecular MedicineHealth

Publications per year

2003–2023

32

Publications

32

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

Chong Kun Cheon, Sohee Lim, Yoo‐Mi Kim et al. · Scientific Reports · 2017 · 62 citations · Full text

High Frequency of <b><i>DUOX2</i></b> Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands

Hye Young Jin, Sun‐Hee Heo, Yoo‐Mi Kim et al. · Hormone Research in Paediatrics · 2014 · 59 citations

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

Jin‐Ho Choi, Beom Hee Lee, Ja Hye Kim et al. · Journal of Human Genetics · 2015 · 47 citations · Full text

Genetic Disorder, Genetics, Inherited Metabolic Disease +8

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

Yoo‐Mi Kim, Yun‐Jin Lee, Jae Hong Park et al. · Clinical Genetics · 2017 · 35 citations

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients

Ja Hye Kim, Beom Hee Lee, Yoo‐Mi Kim et al. · Metabolic Brain Disease · 2014 · 30 citations

Mendelian Disorder, Menkes Disease Patients, Pathology +4

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