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SCI REP-UK 2019 10.1038/s41598-019-52644-1
Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency
Yang1, A; Cho, SY; Kwak, MJ; Kim, SJ; Park, SW; Jin, DK; Lee, JE

ORPHANET J RARE DIS 2019 10.1186/s13023-019-1195-1
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
Yang1, A; Choi, JH; Sohn, YB; Eom, Y; Lee, J; Yoo, HW; Jin, DK

ANN HUM GENET 2019 10.1111/ahg.12298
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum
Yang1, A; Kim, J; Jang, JH; Lee, C; Lee, JE; Cho, SY; Jin, DK

J GLAUCOMA 2019 10.1097/IJG.0000000000001190
Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family
Park1, DY; Cho, SY; Jin, DK; Kee, C

CLIN DYSMORPHOL 2019 10.1097/MCD.0000000000000241
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
Fukuhara1, Y; Cho, SY; Miyazaki, O; Hattori, A; Seo, JH; Mashima, R; Kosuga, M; Fukami, M; Jin, DK; Okuyama, T; Nishimura, G

J INHERIT METAB DIS 2018 10.1007/s10545-018-0221-0
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology
Sohn1, YB; Ko, AR; Seong, MR; Lee, S; Kim, MR; Cho, SY; Kim, JS; Sakaguchi, M; Nakazawa, T; Kosuga, M; Seo, JH; Okuyama, T; Jin, DK

ANN CLIN LAB SCI 2018
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review
Choi1, J; Yang, A; Song, A; Lim, M; Kim, J; Jang, JH; Park, KT; Cho, SY; Jin, DK

ANN CLIN LAB SCI 2018
Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy
Kwak1, MJ; Lee, HW; Kim, YM; Cho, SY; Park, HD; Jin, DK

HORM RES PAEDIAT 2018 10.1159/000491016
Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial
Chung1, WY; Yoo, HW; Hwang, JS; Ko, CW; Kim, HS; Jin, DK; Lee, KH; Han, HS; Paranchothy, P; Suh, BK

HORM RES PAEDIAT 2018 10.1159/000489262
Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study
Hwang1, JS; Lee, HS; Lee, KH; Yoo, HW; Lee, DY; Suh, BK; Ko, CW; Chung, WY; Jin, DK; Shin, CH; Han, HS; Han, S; Kim, HS

MEDICINE 2018 10.1097/MD.0000000000012124
Ptosis in childhood: A clinical sign of several disorders Case series reports and literature review
Pavone1, P; Cho, SY; Pratico, AD; Falsaperla, R; Ruggieri, M; Jin, DK

ANN CLIN LAB SCI 2018
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review
Jeong1, HI; Yang, A; Kim, J; Jang, JH; Cho, SY; Jin, DK

Pharmaceutics 2018 10.3390/pharmaceutics10020069
A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse
Shin1, SH; Park, MH; Byeon, JJ; Lee, BI; Park, Y; Ko, AR; Seong, MR; Lee, S; Kim, MR; Seo, J; Jung, ME; Jin, DK; Shin, YG

J Endocrinol Invest 2018 10.1007/s40618-017-0786-8
Recombinant growth hormone therapy for prepubertal children with idiopathic short stature in Korea: a phase III randomized trial
Kim1, J; Suh, BK; Ko, CW; Lee, KH; Shin, CH; Hwang, JS; Kim, HS; Chung, WY; Kim, CJ; Han, HS; Kwon, NY; Cho, SY; Yoo, HW; Jin, DK

BMC MED GENET 2017 10.1186/s12881-017-0484-6
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report
Yang1, A; Kim, J; Ki, CS; Hong, SH; Cho, SY; Jin, DK

CLIN CHIM ACTA 2017 10.1016/j.cca.2017.06.010
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing
Yang1, A; Cho, SY; Jang, JH; Kim, J; Kim, SZ; Lee, BH; Yoo, HW; Jin, DK

ORPHANET J RARE DIS 2017 10.1186/s13023-017-0702-5
Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience
Yang1, A; Kim, J; Cho, SY; Jin, DK

Orphanet J Rare Dis. 2016 Aug 9;11(1):113. doi: 10.1186/s13023-016-0496-x.
Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study
Cho EK11, Kim J1, Yang A1, Ki CS2, Lee JE3, Cho SY4, Jin DK1.

BMC Med Genet. 2016 Aug 12;17(1):58. doi: 10.1186/s12881-016-0319-x.
Report of 5 novel mutations of the alpha-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
Kwak MJ11, Huh R2, Kim J2, Park HD3, Cho SY2, Jin DK4.

Am J Hum Genet. 2016 Jun 2;98(6):1243-8. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Cho SY11, Bae JS2, Kim NK3, Forzano F4, Girisha KM5, Baldo C6, Faravelli F4, Cho TJ7, Kim D8, Lee KY8, Ikegawa S9, Shim JS10, Ko AR11, Miyake N12, Nishimura G13, Superti-Furga A14, Spranger J15, Kim OH16, Park WY17, Jin DK18.