Works by Kim, Yoo-Mi

Results: 25

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Published in:

Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00464-x

By:

Seo, Go Hun;
Lee, Hane;
Lee, Jungsul;
Han, Heonjong;
Cho, You Kyung;
Kim, Minji;
Choi, Yunha;
Choi, Jeongmin;
Choi, In Hee;
Rhie, Seonkyeong;
Chae, Kyu Young;
Kim, Yoo-Mi;
Cheon, Chong Kun;
Kim, Su Jin;
Lee, Jieun;
Kang, Eungu;
Byeon, Jung Hye;
Yu, Hee Joon;
Shin, Young-Lim;
Oh, Arum

Publication type:

Article

Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 20, p. 6508, doi. 10.3390/jcm12206508

By:

Kim, Yoo-Mi;
Lim, Han-Hyuk;
Kim, Eunhee;
Kim, Geena;
Kim, Minji;
So, Hyejin;
Lee, Byoung Kook;
Kwon, Yoowon;
Min, Jeesu;
Lee, Young Seok

Publication type:

Article

Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.

Published in:

2013

By:

Kim, Yoo-Mi;
Kim, Gu-Hwan;
Lee, Beom Hee;
Lee, jin-Joo;
Choi, Seong-Hoon;
Lee, Ju Yeon;
Yoo, Han-Wook

Publication type:

Abstract

Pancreatic involvement in patients with inborn errors of metabolism.

Published in:

2021

By:

Hwang, Woo Jin;
Lim, Han Hyuk;
Kim, Yoo-Mi;
Chang, Mea Young;
Kil, Hong Ryang;
Kim, Jae Young;
Song, Wung Joo;
Levy, Harvey L.;
Kim, Sook-Za

Publication type:

journal article

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.

Published in:

2020

By:

Kim, Yoo-Mi;
Choi, Jin-Ho;
Kim, Gu-Hwan;
Sohn, Young Bae;
Ko, Jung Min;
Lee, Beom Hee;
Cheon, Chong Kun;
Lim, Han Hyuk;
Heo, Sun-Hee;
Yoo, Han-Wook

Publication type:

journal article

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.

Published in:

2020

By:

Kim, Yoo-Mi;
Choi, Jin-Ho;
Lee, Beom-Hee;
Kim, Gu-Hwan;
Kim, Kyung-Mo;
Yoo, Han-Wook

Publication type:

journal article

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

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54

By:

Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Ja Hye;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Cho, Jahyang;
Cheon, Chong-Kun;
Ko, Jung Min;
Lee, Jung Hyun;
Yoo, Han-Wook

Publication type:

Article

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30

By:

Kim, Ja Hye;
Kim, Yoo-Mi;
Lee, Beom Hee;
Cho, Ja Hyang;
Kim, Gu-Hwan;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16

By:

Woo, Kyu Ha;
Lee, Beom Hee;
Heo, Sun Hee;
Kim, Jae-Min;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Kim, Ja Hye;
Choi, In-Hee;
Yang, Song Hyun;
Yoo, Han-Wook

Publication type:

Article

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67

By:

Lee, Beom Hee;
Kim, Gu-Hwan;
Oh, Tae Jeong;
Kim, Joo Hyun;
Lee, Jin-Joo;
Choi, Seung Hoon;
Lee, Joo Yeon;
Kim, Jae-Min;
Choi, In Hee;
Kim, Yoo-Mi;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Efficacy and safety of topical corticosteroid treatment under occlusion for severe alopecia areata in children: a single-centre retrospective analysis.

Published in:

Clinical & Experimental Dermatology, 2024, v. 49, n. 10, p. 1125, doi. 10.1093/ced/llae085

By:

Lee, Young Yoon;
Lim, Han Hyuk;
Son, Seungjin;
Jin, Soyoung;
Shin, Jung-Min;
Hong, Dong-Kyun;
Jung, Kyung Eun;
Seo, Young-Joon;
Lee, Tae Kwan;
Kim, Yoo-Mi;
Lee, Young

Publication type:

Article

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

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038

By:

Kim, Yoo-Mi;
Lee, Yun-Jin;
Park, Jae Hong;
Lee, Hyoung-Doo;
Cheon, Chong Kun;
Kim, Su-Young;
Hwang, Jae-Yeon;
Jang, Ja-Hyun;
Yoo, Han-Wook

Publication type:

Article

Psychometric properties of the Korean version of the Copenhagen Burnout Inventory in Korean homecare workers for older adults.

Published in:

PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0221323

By:

Jeon, Gyeong-Suk;
You, Sun-Ju;
Kim, Myo-Gyeong;
Kim, Yoo-Mi;
Cho, Sung-Il

Publication type:

Article

Prevalence of asthma in preterm and associated risk factors based on prescription data from the Korean National Health Insurance database.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-31558-z

By:

Kim, Kwanghoon;
Lee, Ji Young;
Kim, Yoo-Mi;
Kim, Geena;
Kim, Eun-Hee;
Lee, Byoung Kook;
So, Hyejin;
Kwon, Yoowon;
Shin, Jeongmin;
Kim, Minji

Publication type:

Article

Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations.

Published in:

Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 288, doi. 10.1159/000371466

By:

Kim, Ja Hye;
Kim, Yoo-Mi;
Yum, Mi-Sun;
Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

Article

High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands.

Published in:

Hormone Research in Paediatrics, 2014, v. 82, n. 4, p. 252, doi. 10.1159/000362235

By:

Jin, Hye Young;
Heo, Sun-Hee;
Kim, Yoo-Mi;
Kim, Gu-Hwan;
Choi, Jin-Ho;
Lee, Beom-Hee;
Yoo, Han-Wook

Publication type:

Article

Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation.

Published in:

Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 388, doi. 10.1159/000339677

By:

Choi, Jin-Ho;
Lee, Beom Hee;
Jung, Chang-Woo;
Kim, Yoo-Mi;
Jin, Hye Young;
Kim, Jae-Min;
Kim, Gu-Hwan;
Hwang, Jin Soon;
Yang, Sei Won;
Lee, Jin;
Yoo, Han-Wook

Publication type:

Article

Comparative proteomic analysis in children with idiopathic short stature ( ISS) before and after short-term recombinant human growth hormone (rh GH) therapy.

Published in:

Proteomics, 2013, v. 13, n. 7, p. 1211, doi. 10.1002/pmic.201200131

By:

Heo, Sun Hee;
Choi, Jin‐Ho;
Kim, Yoo‐Mi;
Jung, Chang‐Woo;
Lee, Jin;
Jin, Hye Young;
Kim, Gu‐Hwan;
Lee, Beom Hee;
Shin, Choong Ho;
Yoo, Han‐Wook

Publication type:

Article

Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome.

Published in:

Pediatric Pulmonology, 2017, v. 52, n. 2, p. E4, doi. 10.1002/ppul.23533

By:

Kim, Hyung Young;
Kim, Yoo-Mi;
Park, Hee Ju

Publication type:

Article

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

Published in:

Metabolic Brain Disease, 2015, v. 30, n. 1, p. 75, doi. 10.1007/s11011-014-9569-5

By:

Kim, Ja;
Lee, Beom;
Kim, Yoo-Mi;
Choi, Jin-Ho;
Kim, Gu-Hwan;
Cheon, Chong;
Yoo, Han-Wook

Publication type:

Article

Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant.

Published in:

Metabolic Brain Disease, 2013, v. 28, n. 3, p. 519, doi. 10.1007/s11011-013-9398-y

By:

Kim, Seung;
Lee, Beom;
Kim, Yoo-Mi;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

Article

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.

Published in:

Clinical & Translational Medicine, 2022, v. 12, n. 5, p. 1, doi. 10.1002/ctm2.862

By:

Kim, Eun Na;
Do, Hyo‐Sang;
Jeong, Hwangkyo;
Kim, Taeho;
Heo, Sun Hee;
Kim, Yoo‐Mi;
Cheon, Chong Kun;
Lee, Yena;
Choi, Yunha;
Choi, In Hee;
Choi, Jeongmin;
Yoo, Han‐Wook;
Kim, Chong Jai;
Zimran, Ari;
Kim, Kyunggon;
Lee, Beom Hee

Publication type:

Article

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

Published in:

Molecular Medicine, 2016, v. 22, n. 1, p. 147, doi. 10.2119/molmed.2015.00254

By:

Kim, Yoo-Mi;
Kim, Ja Hye;
Choi, Jin-Ho;
Kim, Gu-Hwan;
Kim, Jae-Min;
Kang, Minji;
Choi, In-Hee;
Cheon, Chong Kun;
Sohn, Young Bae;
Maccarana, Marco;
Yoo, Han-Wook;
Lee, Beom Hee

Publication type:

Article

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01104-9

By:

Lee, Yena;
Choi, Yunha;
Seo, Go Hun;
Kim, Gu-Hwan;
Keum, Changwon;
Kim, Yoo-Mi;
Do, Hyo-Sang;
Choi, Jeongmin;
Choi, In Hee;
Yoo, Han-Wook;
Lee, Beom Hee

Publication type:

Article

Relationship between urinary sodium excretion and bone mineral density in pediatrics: population-based study from KNHANES V 2010–2011.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 6, p. 553, doi. 10.1515/jpem-2023-0520

By:

Lee, In Kyung;
Kim, Yoo Mi;
Lim, Han Hyuk

Publication type:

Article