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1

A Sequential Search Method of Dispatching Rules for Scheduling of LCD Manufacturing Systems

Lee, Je-Hun, Kim, Young, Kim, Yun Bae, Kim, Byung-Hee, Jung, Gu-Hwan, Kim, Hyun-Jung

Journal:

IEEE Transactions on Semiconductor Manufacturing

Year:

2020

File:

PDF, 1.67 MB

2020

2

DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea

Cho, Ja Hyang, Kang, Eungu, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook

Journal:

Journal of Korean Medical Science

Year:

2017

Language:

english

File:

PDF, 834 KB

english, 2017

3

Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome

Kim, Eun-Hee, Yum, Mi-Sun, Lee, Beom-Hee, Kim, Hyo-Won, Lee, Hyun-Jeoung, Kim, Gu-Hwan, Lee, Yun-Jeong, Yoo, Han-Wook, Ko, Tae-Sung

Journal:

Journal of Clinical Neurology

Year:

2016

Language:

english

File:

PDF, 639 KB

english, 2016

4

A Case of a Korean Adult Affected by Type B Niemann-Pick Disease: Secondary Sea-blue Histiocytosis and Molecular Characterization

Cho, Young-Uk, Chae, Jeong Don, Lee, Won Mi, Woo, Jeong Joo, Lee, Hong Bock, Gong, Soo Jung, Park, Chan-Jeoung, Kim, Gu-Hwan, Yoo, Han-Wook

Journal:

The Korean Journal of Laboratory Medicine

Year:

2009

Language:

english

File:

PDF, 1.32 MB

english, 2009

5

Identification of extremely rare mitochondrial disorders by whole exome sequencing

Seo, Go Hun, Oh, Arum, Kim, Eun Na, Lee, Yeonmi, Park, Jumi, Kim, Taeho, Lim, Young-Min, Kim, Gu-Hwan, Kim, Chong Jai, Yoo, Han-Wook, Kang, Eunju, Lee, Beom Hee

Journal:

Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 2.04 MB

english, 2019

6

Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations

Lee, Junwon, Suh, Yoonjong, Jeong, Han, Kim, Gu-Hwan, Byeon, Suk Ho, Han, Jinu, Lim, Hyun Taek

Journal:

Journal of Human Genetics

Year:

2020

File:

PDF, 1.87 MB

2020

7

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

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

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.29 MB

2020

8

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

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

Journal:

Year:

2007

Language:

english

File:

PDF, 281 KB

english, 2007

9

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

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

Journal:

Year:

2006

Language:

english

File:

PDF, 148 KB

english, 2006

10

Focal hand dystonia in a patient with PANK2 mutation

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

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 73 KB

english, 2008

11

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

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

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 225 KB

english, 2008

12

Proteomic analysis of the hepatic tissue of Long–Evans Cinnamon (LEC) rats according to the natural course of Wilson disease

Beom H. Lee, Jae-Min Kim, Sun H. Heo, Joo H. Mun, Jihun Kim, Joo H. Kim, Hye Y. Jin, Gu-Hwan Kim, Jin-Ho Choi, Han-Wook Yoo

Journal:

Year:

2011

Language:

english

File:

PDF, 388 KB

english, 2011

13

Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease

Jung-Young Park, Joo Hee Mun, Beom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, Han-Wook Yoo

Journal:

PROTEOMICS - Clinical Applications

Year:

2009

Language:

english

File:

PDF, 176 KB

english, 2009

14

Identification of a novel mutation in theGLUT2gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia

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

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 96 KB

english, 2002

15

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

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

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 70 KB

english, 2006

16

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

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

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 64 KB

english, 2007

17

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

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

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 161 KB

english, 2009

18

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia

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

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 176 KB

english, 2011

19

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

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

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 198 KB

english, 2011

20

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

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

Journal:

Clinical Endocrinology

Year:

2010

Language:

english

File:

PDF, 78 KB

english, 2010

21

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

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

Journal:

Clinical Endocrinology

Year:

2011

Language:

english

File:

PDF, 107 KB

english, 2011

22

Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis–renal-dysfunction–cholestasis syndrome

Kyung M. Kim, Gu-Hwan Kim, Young S. Park, Han-Wook Yoo

Journal:

Pediatrics International

Year:

2011

Language:

english

File:

PDF, 195 KB

english, 2011

23

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort

Beom H. Lee, Joo H. Kim, Sun Y. Lee, Hye Y. Jin, Kwi-Joo Kim, Jin-Joo Lee, Jung-Young Park, Gu-Hwan Kim, Jin-Ho Choi, Kyung M. Kim, Han-Wook Yoo

Journal:

Liver International

Year:

2011

Language:

english

File:

PDF, 254 KB

english, 2011

24

PTPN11,SOS1,KRAS, andRAF1gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome

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

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

25

Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes

Beom Hee Lee, Jae-Min Kim, Hye Young Jin, Gu-Hwan Kim, Jin-Ho Choi, Han-Wook Yoo

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 295 KB

english, 2011

26

Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita

Jin-Ho Choi, Jung-Young Park, Gu-Hwan Kim, Hye Young Jin, Beom Hee Lee, Jae Hyun Kim, Choong Ho Shin, Sei Won Yang, Han-Wook Yoo

Journal:

Year:

2011

Language:

english

File:

PDF, 412 KB

english, 2011

27

A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy

Jeong A. Park, Kyung Ran Jun, Sung-Hee Han, Gu-Hwan Kim, Han-Wook Yoo, Yun Jung Hur

Journal:

Year:

2012

Language:

english

File:

PDF, 213 KB

english, 2012

28

Comparison between Aniridia with and without PAX6 Mutations: Clinical and Molecular Analysis in 14 Korean Patients with Aniridia

Hyun Taek Lim, Eul-Ju Seo, Gu-Hwan Kim, Hyosook Ahn, Hye-jin Lee, Kwang Hun Shin, Jong-Keuk Lee, Han-Wook Yoo

Journal:

Year:

2012

Language:

english

File:

PDF, 828 KB

english, 2012

29

Argininemia Presenting With Progressive Spastic Diplegia

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

Journal:

Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 66 KB

english, 2011

30

Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease

Beom Hee Lee, Dae-Yeon Kim, Gu-Hwan Kim, Kyung-Ja Cho, Hye-Kyung Yoon, Han-Wook Yoo

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 622 KB

english, 2012

31

High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations

Beom Hee Lee, Yoo-Mi Kim, Sun Hee Heo, Gu-Hwan Kim, In-Hee Choi, Byong Sop Lee, Ellen Ai-Rhan Kim, Ki-Soo Kim, Won Kyoung Jhang, Seong Jong Park, Han-Wook Yoo

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 604 KB

english, 2013

32

Novelde novononsense mutation ofFBN1gene in a patient with Marfan syndrome

SONG, YOUNG-HWA, KIM, GU-HWAN, YOO, HAN-WOOK, KIM, JUNE-BUM

Journal:

Journal of Genetics

Year:

2012

Language:

english

File:

PDF, 553 KB

english, 2012

33

Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease

Hye Won Park, Yonghee Lee, Gu-Hwan Kim, Byong Sop Lee, Ki Soo Kim, Han-Wook Yoo, Ellen Ai-Rhan Kim

Journal:

Year:

2012

Language:

english

File:

PDF, 988 KB

english, 2012

34

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 726 KB

english, 2013

35

The early molecular processes underlying the neurological manifestations of an animal model of Wilson's disease

Lee, Beom Hee, Kim, Joo Hyun, Kim, Jae-Min, Heo, Sun Hee, Kang, Minji, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook

Journal:

Year:

2013

Language:

english

File:

PDF, 2.37 MB

english, 2013

36

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

Seung Jin Kim, Beom Hee Lee, Yoo-Mi Kim, Gu-Hwan Kim…

Journal:

Metabolic Brain Disease

Year:

2013

Language:

english

File:

PDF, 261 KB

english, 2013

37

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

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

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 412 KB

english, 2013

38

Response to growth hormone therapy in children with Noonan syndrome: correlation with or withoutPTPN11Gene mutation

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

Journal:

International Journal of Pediatric Endocrinology

Year:

2013

Language:

english

File:

PDF, 325 KB

english, 2013

39

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

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

Journal:

International Journal of Pediatric Endocrinology

Year:

2013

Language:

english

File:

PDF, 333 KB

english, 2013

40

Clinical and molecular characteristics of congenital hypothyroidism withDUOX2mutations

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

Journal:

International Journal of Pediatric Endocrinology

Year:

2013

Language:

english

File:

PDF, 326 KB

english, 2013

41

Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome

Kim, Yoo-Mi, Kim, Gu-Hwan, Lee, Beom, Lee, Jin-Joo, Choi, Seong-Hoon, Lee, Ju, Yoo, Han-Wook

Journal:

International Journal of Pediatric Endocrinology

Year:

2013

Language:

english

File:

PDF, 332 KB

english, 2013

42

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis

Lee, Beom Hee, Kim, Yoo-Mi, Kim, Joo Hyun, Kim, Gu-Hwan, Lee, Byong Sop, Kim, Chong Jai, Yoo, Hyun Ju, Yoo, Han-Wook

Journal:

Brain and Development

Year:

2014

Language:

english

File:

PDF, 1.94 MB

english, 2014

43

A case with combined rare inborn metabolic disorders: Congenital adrenal hyperplasia and ornithine transcarbamylase deficiency

Kim, Yoo-Mi, Lee, Beom Hee, Choi, Jin-Ho, Kim, Gu-Hwan, Lim, Han Hyuk, Yoo, Han-Wook

Journal:

Year:

2013

Language:

english

File:

PDF, 358 KB

english, 2013

44

OTC Gene in Ornithine Transcarbamylase Deficiency: Clinical Course and Mutational Spectrum in Seven Korean Patients

Lee, Jung Hyun, Kim, Gu-Hwan, Yoo, Han-Wook, Cheon, Chong-Kun

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 331 KB

english, 2014

45

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

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

Journal:

Metabolic Brain Disease

Year:

2015

Language:

english

File:

PDF, 824 KB

english, 2015

46

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

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

Journal:

Hormone Research in Paediatrics

Year:

2014

Language:

english

File:

PDF, 208 KB

english, 2014

47

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

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

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 267 KB

english, 2014

48

Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by Screening ATP7B Major Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System

Kim, Gu-Hwan, Yang, Jeong Yoon, Park, Jung-Young, Lee, Jin Joo, Kim, Ju Hyun, Yoo, Han-Wook

Journal:

Genetic Testing

Year:

2008

Language:

english

File:

PDF, 163 KB

english, 2008

49

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

Lee, Beom Hee, Heo, Sun Hee, Kim, Gu-Hwan, Park, Jung-Young, Kim, Woo-Shik, Kang, Duk-Hee, Choe, Kyung Hoon, Kim, Won-Ho, Yang, Song Hyun, Yoo, Han-Wook

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 382 KB

english, 2010

50

Effects of a chemical chaperone on genetic mutations in α-galactosidase A in Korean patients with Fabry disease

Park, Jung-Young, Kim, Gu-Hwan, Kim, Sung-Su, Ko, Jung Min, Lee, Jin-Joo, Yoo, Han-Wook

Journal:

Experimental and Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 447 KB

english, 2009