Works matching AU Han-Wook Yoo

Results: 156

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.

Published in:

2011

By:

Hye Young Jin;
Jin-Ho Choi;
Beom Hee Lee;
Gu-Hwan Kim;
Hyung Kyung Kim;
Han-Wook Yoo;
Jin, Hye Young;
Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Gu-Hwan;
Kim, Hyung Kyung;
Yoo, Han-Wook

Publication type:

journal article

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Published in:

2009

By:

Jung Min Ko;
Chong-Kun Cheon;
Gu-Hwan Kim;
Han-Wook Yoo;
Ko, Jung Min;
Cheon, Chong-Kun;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

journal article

A Randomized, Double‐Blind, 2‐Treatment, 2‐Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy Volunteers Following a Single Intravenous Administration

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 6, p. 1, doi. 10.1002/mgg3.70111

By:

Kang, Eungu;
Kim, Dohyung;
Hwang, Soojin;
Lemech, Charlotte;
Wharton, Jessica;
Lee, Yongyoon;
Yoo, Han Wook;
Lee, Beom Hee

Publication type:

Article

KMD: Korean mutation database for genes related to diseases.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. E2332, doi. 10.1002/humu.22039

By:

Park, Mi-Hyun;
Koo, Soo Kyung;
Lee, Jin-Sung;
Yoo, Han-Wook;
Kim, Jong-Won;
Cheong, Hae Il;
Park, Hyun-Young

Publication type:

Article

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1108, doi. 10.1002/humu.20574

By:

Park, Sangwook;
Park, Jung-Young;
Kim, Gu-Hwan;
Choi, Jin-Ho;
Kim, Kyung-Mo;
Kim, Jong-Bae;
Yoo, Han-Wook

Publication type:

Article

Identification of novel mutations in the human ornithine transcarbamylase ( OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1159, doi. 10.1002/humu.9465

By:

Kim, Gu-Hwan;
Choi, Jin-Ho;
Lee, Hyung-Haon;
Park, Sangwook;
Kim, Sung-Su;
Yoo, Han-Wook

Publication type:

Article

Development of SNP-based human identification system.

Published in:

International Journal of Legal Medicine, 2010, v. 124, n. 2, p. 125, doi. 10.1007/s00414-009-0389-9

By:

Jae-Jung Kim;
Bok-Ghee Han;
Hae-In Lee;
Han-Wook Yoo;
Jong-Keuk Lee

Publication type:

Article

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.

Published in:

JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10744

By:

Munns, Craig F;
Yoo, Han‐Wook;
Jalaludin, Muhammad Yazid;
Vasanwala, Rashida;
Chandran, Manju;
Rhee, Yumie;
BUT, Wai Man;
Kong, Alice Pik‐Shan;
Su, Pen‐Hua;
Numbenjapon, Nawaporn;
Namba, Noriyuki;
Imanishi, Yasuo;
Clifton‐Bligh, Roderick J;
Luo, Xiaoping;
Xia, Weibo

Publication type:

Article

First‐in‐Asian Phase I Study of the Anti‐Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X‐linked Hypophosphatemia.

Published in:

JBMR Plus, 2019, v. 3, n. 2, p. N.PAG, doi. 10.1002/jbm4.10074

By:

Cheong, Hae Il;
Yoo, Han‐Wook;
Adachi, Masanori;
Tanaka, Hiroyuki;
Fujiwara, Ikuma;
Hasegawa, Yukihiro;
Harada, Daisuke;
Sugimoto, Maiko;
Okada, Yosuke;
Kato, Masaki;
Shimazaki, Ryutaro;
Ozono, Keiichi;
Seino, Yoshiki

Publication type:

Article

A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Published in:

2011

By:

Bae, Keun;
Kim, Bo;
Choi, Jin-Ho;
Lee, Joo;
Park, Young;
Kim, Gu-Hwan;
Yoo, Han;
Seo, Jong;
Bae, Keun Wook;
Kim, Bo Eun;
Lee, Joo Hoon;
Park, Young Seo;
Yoo, Han Wook;
Seo, Jong Jin

Publication type:

journal article

A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth.

Published in:

2007

By:

Jung Min Ko;
Jung Hyun Lee;
Gu-Hwan Kim;
Ai-Rhan Kim;
Han-Wook Yoo

Publication type:

Report

Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate.

Published in:

European Journal of Pediatrics, 2006, v. 165, n. 2, p. 138, doi. 10.1007/s00431-005-0009-8

By:

Jin-Ho Choi;
Young-Lim Shin;
Gu-Hwan Kim;
Soo-Jong Hong;
Han-Wook Yoo

Publication type:

Article

Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.

Published in:

2002

By:

Yoo, Han-Wook;
Shin, Young-Lim;
Seo, Eul-Ju;
Kim, Gu-Hwan

Publication type:

journal article

Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors.

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.610730

By:

Lee, Yena;
Shin, Juhee;
Choi, Yunha;
Kim, Hyery;
Koh, Kyung-Nam;
Im, Ho Joon;
Yoo, Han-Wook;
Choi, Jin-Ho

Publication type:

Article

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.

Published in:

2015

By:

Jhang, Won Kyoung;
Lee, Beom Hee;
Kim, Gu-Hwan;
Lee, Jin-Ok;
Yoo, Han-Wook

Publication type:

journal article

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.

Published in:

Annals of Clinical & Laboratory Science, 2016, v. 46, n. 4, p. 360

By:

Yoo-Mi Kim;
Chong-Kun Cheon;
Kyung-Hee Park;
Sung Won Park;
Gu-Hwan Kim;
Han-Wook Yoo;
Kyung-A Lee;
Jung Min Ko

Publication type:

Article

Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial.

Published in:

2019

By:

Yang, Aram;
Choi, Jin-Ho;
Sohn, Young Bae;
Eom, Yunae;
Lee, Jiyoon;
Yoo, Han-Wook;
Jin, Dong-Kyu

Publication type:

journal article

Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.

Published in:

Journal of Neurosurgery, 2016, v. 124, n. 5, p. 1221, doi. 10.3171/2015.4.JNS142900

By:

Eun-Hee Kim;
Mi-Sun Yum;
Young-Shin Ra;
Jun Bum Park;
Jae Sung Ahn;
Gu-Hwan Kim;
Hyun Woo Goo;
Tae-Sung Ko;
Han-Wook Yoo

Publication type:

Article

Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings.

Published in:

Korean Journal of Hepatology, 2011, v. 17, n. 4, p. 313, doi. 10.3350/kjhep.2011.17.4.313

By:

Joo Ho Lee;
Yung Sang Lee;
Pyo Nyun Kim;
Beom Hee Lee;
Gu-Whan Kim;
Han-Wook Yoo;
Nae-Yun Heo;
Young-Suk Lim;
Han Chu Lee;
Young-Hwa Chung;
Dong Jin Suh

Publication type:

Article

Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.

Published in:

Movement Disorders, 2008, v. 23, n. 15, p. 2251, doi. 10.1002/mds.22337

By:

Kim, Mi J.;
Jeon, Sang R.;
Yoo, Han-Wook;
Kim, Gu-Hwan;
Lee, Myoung C.;
Chung, Sun J.

Publication type:

Article

Focal hand dystonia in a patient with PANK2 mutation.

Published in:

Movement Disorders, 2008, v. 23, n. 3, p. 466, doi. 10.1002/mds.21880

By:

Chung, Sun J.;
Lee, Jae-Hong;
Lee, Myoung C.;
Yoo, Han-Wook;
Kim, Gu-Hwan

Publication type:

Article

Trajectories in glycated hemoglobin and body mass index in children and adolescents with diabetes using the common data model.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94194-5

By:

Lee, Yun Jeong;
Yoo, Sooyoung;
Yi, Soyoung;
Kim, Seok;
Lee, Chunggak;
Cho, Jihoon;
Ahn, Soyeon;
Choi, Sunkyu;
Hwang, Hee;
Lee, Young Ah;
Shin, Choong Ho;
Yoon, Hyung-Jin;
Kim, Kwangsoo;
Song, Eunhye;
Choi, Jin Ho;
Yoo, Han Wook;
Kim, Young-Hak;
Oh, Ji Seon;
Kang, Eun-Ae;
Baek, Ga Kyoung

Publication type:

Article

Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.

Published in:

Cells (2073-4409), 2020, v. 9, n. 4, p. 872, doi. 10.3390/cells9040872

By:

Kim, Dongkyu;
Kim, Su-Bin;
Ryu, Jung Lim;
Hong, Heesu;
Chang, Jin-Hyuk;
Yoo, Tack-Jin;
Jin, Xiong;
Park, Han-Jin;
Han, Choongseong;
Lee, Beom Hee;
Choi, Jin-Ho;
Yoo, Han-Wook;
Kim, Jong-Hoon;
Woo, Dong-Hun

Publication type:

Article

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

Published in:

2018

By:

Kang, Eungu;
Kim, Yoon-Myung;
Kang, Minji;
Heo, Sun-Hee;
Kim, Gu-Hwan;
Choi, In-Hee;
Choi, Jin-Ho;
Yoo, Han-Wook;
Lee, Beom Hee

Publication type:

journal 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

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Published in:

Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944

By:

Kim, Ja Hye;
Shin, Young‐Lim;
Yang, Seung;
Cheon, Chong Kun;
Cho, Ja Hyang;
Lee, Beom Hee;
Kim, Gu‐Hwan;
Lee, Jin Ok;
Seo, Eul Joo;
Choi, Jin‐Ho;
Yoo, Han‐Wook

Publication type:

Article

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

Published in:

Clinical Endocrinology, 2011, v. 75, n. 2, p. 207, doi. 10.1111/j.1365-2265.2011.04026.x

By:

Hye Young Jin;
Beom Hee Lee;
Jin-Ho Choi;
Gu-Hwan Kim;
Jin-Kyung Kim;
Jung Hyun Lee;
Jeesuk Yu;
Jae-Ho Yoo;
Cheol Woo Ko;
Han-Hyuk Lim;
Hye Rim Chung;
Han-Wook Yoo

Publication type:

Article

Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.

Published in:

Clinical Endocrinology, 2010, v. 73, n. 1, p. 66, doi. 10.1111/j.1365-2265.2010.03782.x

By:

Jung Min Ko;
Jae-Min Kim;
Gu-Hwan Kim;
Beom Hee Lee;
Han-Wook Yoo

Publication type:

Article

The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.

Published in:

Clinical Endocrinology, 2010, v. 72, n. 2, p. 196, doi. 10.1111/j.1365-2265.2009.03681.x

By:

Jung Min Ko;
Jae-Min Kim;
Chong-Kun Cheon;
Duk-Hee Kim;
Dae-Yeol Lee;
Woo Yeong Cheong;
Eun Young Kim;
Mi Jung Park;
Han-Wook Yoo

Publication type:

Article

Common exon 3 polymorphism of the GH receptor ( GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS).

Published in:

Clinical Endocrinology, 2009, v. 70, n. 1, p. 82, doi. 10.1111/j.1365-2265.2008.03418.x

By:

Jung Min Ko;
Jung Young Park;
Han-Wook Yoo

Publication type:

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

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116

By:

Jung, Chang-Woo;
Lee, Beom Hee;
Kim, Joo Hyun;
Kim, Gu-Hwan;
Lee, Jin;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Low prevalence of classical galactosemia in Korean population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152

By:

Lee, Beom Hee;
Cheon, Chong Kun;
Kim, Jae-Min;
Kang, Minji;
Kim, Joo Hyun;
Yang, Song Hyun;
Kim, Gu-Hwan;
Choi, Jin-ho;
Yoo, Han-Wook

Publication type:

Article

Identification of 15 loci influencing height in a Korean population.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 27, doi. 10.1038/jhg.2009.116

By:

Jae-Jung Kim;
Hae-In Lee;
Taesung Park;
Kyunga Kim;
Jong-Eun Lee;
Nam HanCho;
Shin, Chol;
Cho, Yoon Shin;
Jong-Young Lee;
Han, Bok-Ghee;
Han-Wook Yoo;
Jong-Keuk Lee

Publication type:

Article

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113

By:

Numata, Sanae;
Koda, Yoshiro;
Ihara, Kenji;
Sawada, Tomo;
Okano, Yoshiyuki;
Matsuura, Toshinobu;
Endo, Fumio;
Han-Wook Yoo;
Arranz, Jose A.;
Rubio, Vicente;
Wermuth, Bendicht;
Ah Mew, Nicholas;
Tuchman, Mendel;
Pinner, Jason R.;
Kirk, Edwin P.;
Yoshino, Makoto

Publication type:

Article

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 999, doi. 10.1007/s10038-008-0343-6

By:

Jung Min Ko;
Jae-Min Kim;
Gu-Hwan Kim;
Han-Wook Yoo

Publication type:

Article

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

Published in:

Journal of Human Genetics, 2005, v. 50, n. 12, p. 648, doi. 10.1007/s10038-005-0312-2

By:

Sook-Jin Lee;
Dong Lee;
Han-Wook Yoo;
Soo Koo;
Eun-Sook Park;
Joo-Won Park;
Hun Lim;
Sung-Chul Jung

Publication type:

Article

Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 10, p. 536, doi. 10.1007/s10038-004-0186-8

By:

Hong, Young;
Kim, Eun;
Yoo, Han-Wook;
Jung, Sung-Chul

Publication type:

Article

FABRY DISEASE PRESENTING WITH HYPERTROPHIC CARDIOMYOPATHY AND TRICUSPID REGURGITATION.

Published in:

2016

By:

SANG-CHEOLCHO;
HAN-WOOK YOO;
JAEWON LEE;
JEONG YOON JANG;
RAN HEO;
JONG-MIN SONG

Publication type:

Case Study

Clinical course and endocrinological characteristics of prolactinoma in children and adolescents.

Published in:

2013

By:

Yoo-Mi Kim;
Jin-Ho Choi;
Beom Hee Lee;
Han-Wook Yoo

Publication type:

Abstract

Giant bilateral symptomatic adrenal myelolipomas manifested in an adult with congetnial adrenal hyperplasia.

Published in:

2013

By:

Yoo-Mi Kim;
Jin-Ho Choi;
Beom-Hee Lee;
Gu-Hwan Kim;
Beom-Sik Hong;
Yong-Joon Ryu;
Han-Wook Yoo

Publication type:

Abstract

Congenital lipoid adrenal hyperplasia in twin sisters.

Published in:

2013

By:

Hye Won Park;
Byung Ok Kwak;
Han-Wook Yoo;
Sochung Chung

Publication type:

Abstract

Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 Gene mutation.

Published in:

2013

By:

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

Publication type:

Abstract

Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutations.

Published in:

2013

By:

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

Publication type:

Abstract

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

Management of rasopathies.

Published in:

2013

By:

Han-Wook Yoo

Publication type:

Abstract

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