RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model

Authors: Park, Ji-Won, Choi, Tae-Ik, Kim, Tae-Yoon, Lee, Yu-Ri, Don, Dilan Wellalage, George-Abraham, Jaya K., Robak, Laurie A., Trandafir, Cristina C., Liu, Pengfei, Rosenfeld, Jill A., Kim, Tae Hyeong, Petit, Florence, Kim, Yoo-Mi, Cheon, Chong Kun, Lee, Yoonsung, Kim, Cheol-Hee

Source: In Journal of Genetics and Genomics December 2024 51(12):1389-1403

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

Authors: 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

Source: Clinical & Experimental Dermatology; Oct2024, Vol. 49 Issue 10, p1125-1130, 6p

Subject Terms: CHILD patients, CLOBETASOL, PLASTIC films, ADRENAL insufficiency, DISEASE relapse, ALOPECIA areata

Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing

Authors: Yang, Eu Jeen, Park, Kyung Mi, Kim, Yoo-Mi, Jung, Ki Sun, Lim, Young Tak, Cheon, Chong Kun

Source: Journal of pediatric hematology/oncology. 42(3):e188-e192

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181786954.0x000001&indx=1&recIds=ETOCvdc_100181786954.0x000001

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

Authors: 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

Source: Clinical and translational medicine. 12(5)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163488859.0x000001&indx=1&recIds=ETOCvdc_100163488859.0x000001

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

Authors: Lee, In Kyung, Kim, Yoo Mi, Lim, Han Hyuk

Source: Journal of Pediatric Endocrinology & Metabolism; Jun2024, Vol. 37 Issue 6, p553-558, 6p

P402: Identification of de novo DNM1L mutation in Korean infancy presenting with failure to thrive, dicarboxylic aciduria and lactic acidosis

Authors: Kim, Yoo-Mi, Kim, Eunhee

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Pancreatic involvement in patients with inborn errors of metabolism

Authors: 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

Source: Orphanet journal of rare diseases. 16(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193171715.0x000001&indx=1&recIds=ETOCvdc_100193171715.0x000001

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

Authors: Cheon, Chong, Lim, So-Hee, Kim, Yoo-Mi, Kim, Doyoun, Lee, Na-Yoon, Yoon, Tae-Sung, Kim, Nam-Soon, Kim, Eunjoon, Lee, Jae-Ran

Source: Scientific reports. 7(1):1-11

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184088915.0x000001&indx=1&recIds=ETOCvdc_100184088915.0x000001

A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation

Authors: Kim, Yoo-Mi, Kang, Minji, Choi, Jin-Ho, Lee, Beom Hee, Kim, Gu-Hwan, Ohn, Jung Hun, Kim, Seong Yeon, Park, Moon Soo, Yoo, Han-Wook

Source: In Metabolism January 2014 63(1):42-49

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

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

Source: Molecular medicine. 22(1):147-155

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185411937.0x000001&indx=1&recIds=ETOCvdc_100185411937.0x000001

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

Authors: Kim, Yoo-Mi^1,2 (AUTHOR) damus@cnu.ac.kr, Lim, Han-Hyuk^2,3 (AUTHOR), Kim, Eunhee^1,2 (AUTHOR) drgnkim@naver.com, Kim, Geena^1,2 (AUTHOR) alpineheidi@hanmail.net, Kim, Minji^1,2 (AUTHOR) dreams_maybe@hanmail.net, So, Hyejin¹ (AUTHOR) raphael@cnuh.co.kr, Lee, Byoung Kook^1,2 (AUTHOR) youyisi68@gmail.com, Kwon, Yoowon¹ (AUTHOR) jeesu.min@gmail.com, Min, Jeesu¹ (AUTHOR), Lee, Young Seok⁴ (AUTHOR) dkrad@cnuh.co.kr

Source: Journal of Clinical Medicine. Oct2023, Vol. 12 Issue 20, p6508. 19p.

Subject Terms: *GROWTH of children, *GESTATIONAL age, *SHORT stature, *DNA copy number variations, *GROWTH plate, *WEIGHT in infancy

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

Authors: 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

Source: Orphanet journal of rare diseases. 15(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186555054.0x000001&indx=1&recIds=ETOCvdc_100186555054.0x000001

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

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

Source: Orphanet journal of rare diseases. 15(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163481724.0x000001&indx=1&recIds=ETOCvdc_100163481724.0x000001

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

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

Source: In Molecular Genetics and Metabolism January 2013 108(1):18-24

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

Authors: 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

Source: Journal of human genetics. 60(9):501-507

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194161674.0x000001&indx=1&recIds=ETOCvdc_100194161674.0x000001

Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency: Hepatosplenomegaly and Nephromegaly

Authors: Lee, Beom Hee, Kim, Yoo-Mi, Kim, Ja Hye, Kim, Gu-Hwan, Kim, Jae-Min, Kim, Joo Hyun, Woo, Kyu Ha, Yang, Song Hyun, Kim, Chong Jai, Choi, In-Hee, Yoo, Han-Wook

Source: Journal of pediatric gastroenterology and nutrition. 60(3):e19-e22

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100037237135.0x000001&indx=1&recIds=ETOCvdc_100037237135.0x000001

A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety adn Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease

Authors: Choi, Jin-Ho, Lee, Beom Hee, Ko, Jung Min, Sohn, Young Bae, Lee, Jin-Sung, Kim, Gu-Hwan, Heo, Sun Hee, Park, June-Young, Kim, Yoo-Mi, Kim, Ja-Hye

Source: Journal of Korean medical science. 30(4):378-384

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN600277510&indx=1&recIds=ETOCRN600277510

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

Authors: Choi, In Hee, Seo, Go Hun, Park, JeongYun, Kim, Yoon-Myung, Cheon, Chong Kun, Kim, Yoo-Mi, Oh, Arum, Byeon, Jung Hye, Kang, Eungu, Shin, Young-Lim, Lee, Ji Eun, Kim, Su Jin, Yu, Hee Joon, Kim, Woo Jin, Choi, Byung Yoon, Kim, Bong Jik, Kim, Young Ho, Im, Gi Jung, Lee, Hyo-Jeong, Kim, Hyun Ji, Han, Se-Hee, Lee, Beom Hee, Eun, Baik-Lin

Source: Medicine. 101(28):e29424-e29424

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100177584315.0x000001&indx=1&recIds=ETOCvdc_100177584315.0x000001

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

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

Source: Scientific Reports; 3/18/2023, Vol. 13 Issue 1, p1-8, 8p

Subject Terms: NATIONAL health insurance, PREMATURE infants, DATABASES, HEALTH insurance claims, ASTHMA, INHALERS, METERED-dose inhalers

Geographic Terms: SOUTH Korea

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

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

Source: Journal of human genetics. 60(7):395-397

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194161999.0x000001&indx=1&recIds=ETOCvdc_100194161999.0x000001