Yoon-Myung Kim

发表

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy

R. Desnick, H. Yoo, Kyungeun Kim, 2017, Journal of Medical Genetics.

Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea

J. Ko, H. Yoo, Gu-Hwan Kim, 2018, Journal of Human Genetics.

Two cases of TSC2/PKD1 contiguous gene deletion syndrome

H. Yoo, Gu-Hwan Kim, B. Lee, 2016 .

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types

Eun Key Kim, J. Tolar, H. Yoo, 2019, Journal of Human Genetics.

Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia

H. Yoo, Gu-Hwan Kim, B. Lee, 2017, Molecular Medicine.

Biochemical and molecular characterisation of neurological Wilson disease

H. Yoo, S. Chung, Gu-Hwan Kim, 2018, Journal of Medical Genetics.

H. Yoo, Gu-Hwan Kim, B. Lee, 2015 .

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12

H. Yoo, Gu-Hwan Kim, B. Lee, 2018, Journal of Genetic Medicine.

Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report

H. Yoo, Jin-Ho Choi, G. Seo, 2018, Annals of pediatric endocrinology & metabolism.

The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums

H. Yoo, Gu-Hwan Kim, B. Lee, 2018, Medicine.

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

J. Ko, H. Yoo, Gu-Hwan Kim, 2018, BMC Medical Genetics.

Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases.

G. Im, C. Cheon, J. Lee, 2022, Medicine.

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

J. Tolar, A. Rolfs, H. Yoo, 2019, Journal of Medical Genetics.

Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression

H. Yoo, B. Lee, H. Yoon, 2021, Orphanet Journal of Rare Diseases.

Ehlers-Danlos syndrome VIII with novel C1R variant accompanying white matter changes

Gu-Hwan Kim, B. Lee, G. Seo, 2019, Journal of Genetic Medicine.

Clinical and genetic analyses of patients with lateralized overgrowth

H. Yoo, B. Lee, M. Yum, 2022, BMC Medical Genomics.

Substrate reduction therapy in three patients with Gaucher disease

H. Yoo, S. Kim, Gu-Hwan Kim, 2016 .

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis

H. Yoo, Kun-Suk Kim, Jin-Ho Choi, 2019, Annals of pediatric endocrinology & metabolism.

Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia

H. Yoo, Gu-Hwan Kim, B. Lee, 2017, Molecular medicine.

Endocrine dysfunctions in children with Williams-Beuren syndrome

H. Yoo, Gu-Hwan Kim, B. Lee, 2016, Annals of pediatric endocrinology & metabolism.

Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases.

H. Yoo, Jin-Ho Choi, Y. Kim, 2018, Endocrine journal.

Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.

H. Yoo, B. Lee, Jin-Ho Choi, 2017, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

H. Yoo, Y. Ra, Gu-Hwan Kim, 2017 .

Severe form of neuroblastoma amplified sequence deficiency in an infant with recurrent acute liver failure

B. Lee, S. Oh, Yoon-Myung Kim, 2018, Pediatrics international : official journal of the Japan Pediatric Society.

Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.

C. Kim, H. Yoo, Gu-Hwan Kim, 2018, Clinica chimica acta; international journal of clinical chemistry.

Jun Fan, H. Yoo, B. Lee, 2018 .

Clinical characteristics and treatment outcomes in Camurati–Engelmann disease

H. Yoo, Gu-Hwan Kim, B. Lee, 2018, Medicine.

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

H. Yoo, Gu-Hwan Kim, B. Lee, 2018, BMC Pediatrics.

Clinical and genetic features of four patients with Pearson syndrome

H. Yoo, H. Jin, J. Bae, 2022, Medicine.

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

Jun Suk Kim, H. Yoo, Gu-Hwan Kim, 2016, Korean journal of pediatrics.

Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors

H. Yoo, Y. Ra, Jin-Ho Choi, 2018, Journal of Neuro-Oncology.

An Observational Study

H. Yoo, H. Jin, J. Bae, 2022 .

Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia

H. Yoo, B. Lee, Jin-Ho Choi, 2017, Annals of Pediatric Endocrinology & Metabolism.

Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy

H. Yoo, Gu-Hwan Kim, B. Lee, 2017 .

H. Yoo, Gu-Hwan Kim, B. Lee, 2018 .