Growth hormone therapy in patients with Noonan syndrome

por Seo, Go Hun, Yoo, Han-Wook
Publicado 2018

Weiss-Kruszka Syndrome With Unreported Manifestations; Empty Sella Syndrome Associated With Growth Hormone Deficiency

por Park, Jisun, Kim, Su Jin, Seo, GoHun, Lee, Ji-Eun
Publicado 2021

Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability

por Phetthong, Tim, Khongkrapan, Arthaporn, Jinawath, Natini, Seo, Go-Hun, Wattanasirichaigoon, Duangrurdee
Publicado 2021

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

por Ishaq, Tayyaba, Loid, Petra, Ishaq, Hafiza Abida, Seo, Go Hun, Mäkitie, Outi, Naz, Sadaf
Publicado 2023

Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report

por Jung, Dai, Seo, Go Hun, Kim, Yoon-Myung, Choi, Jin-Ho, Yoo, Han-Wook
Publicado 2018

Phenotypic and Genetic Complexity in Pediatric Movement Disorders

por Kim, Min-Jee, Yum, Mi-Sun, Seo, Go Hun, Ko, Tae-Sung, Lee, Beom Hee
Publicado 2022

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

por Kim, Yoon-Myung, Seo, Go Hun, Kim, Gu-Hwan, Ko, Jung Min, Choi, Jin-Ho, Yoo, Han-Wook
Publicado 2018

Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome

por Park, Jisun, Ha, Dong Jun, Seo, Go Hun, Maeng, Seri, Kang, Sung Mo, Kim, Sujin, Lee, Ji Eun
Publicado 2021

Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene—Long-Term Follow-Up of a Sibling

por Ha, Dong Jun, Park, Jisun, Seo, Go Hun, Lee, Kyoungyeul, Kwon, Young Se, Lee, Ji Eun, Kim, Su Jin
Publicado 2022

Recent Advances in the Application of Antibacterial Complexes Using Essential Oils

por Cho, Tae Jin, Park, Sun Min, Yu, Hary, Seo, Go Hun, Kim, Hye Won, Kim, Sun Ae, Rhee, Min Suk
Publicado 2020

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

por Kim, Min-Jee, Yum, Mi-Sun, Seo, Go Hun, Lee, Yena, Jang, Han Na, Ko, Tae-Sung, Lee, Beom Hee
Publicado 2020

The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6

por Chung, Eun Joo, You, Eunkyoung, Oh, Seung Hwan, Seo, Go Hun, Chung, Woo Yeong, Kim, Yun Joong, Kim, Sang Jin
Publicado 2022

Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion

por Kim, Bong Jik, Jeon, Hyoungwon, Lee, Sang-Yeon, Yi, Nayoung, Han, Jin Hee, Seo, Go Hun, Oh, Seung-Ha, Choi, Byung Yoon
Publicado 2022

Turner syndrome presented with tall stature due to overdosage of the SHOX gene

por Seo, Go Hun, Kang, Eungu, Cho, Ja Hyang, Lee, Beom Hee, Choi, Jin-Ho, Kim, Gu-Hwan, Seo, Eul-Ju, Yoo, Han-Wook
Publicado 2015

The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums

por Seo, Go Hun, Kim, Yoon-Myung, Kang, Eungu, Kim, Gu-Hwan, Seo, Eul-Ju, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook
Publicado 2018

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

por Kim, Yoon-Jeon, Kim, You-Na, Yoon, Young-Hee, Seo, Eul-Ju, Seo, Go-Hun, Keum, Changwon, Lee, Beom-Hee, Lee, Joo-Yong
Publicado 2021

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

por Seo, Go Hun, Kim, Ja Hye, Cho, Ja Hyang, Kim, Gu-Hwan, Seo, Eul-Ju, Lee, Beom Hee, Choi, Jin-Ho, Yoo, Han-Wook
Publicado 2016

Genetic heterogeneity of cardiomyopathy and its correlation with patient care

por Kim, Mi Jin, Cha, Seulgi, Baek, Jae Suk, Yu, Jeong Jin, Seo, Go Hun, Kang, Minji, Do, Hyo-Sang, Lee, Sang Eun, Lee, Beom Hee
Publicado 2023

Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon

por Jaffal, Lama, Akhdar, Hanane, Joumaa, Hawraa, Ibrahim, Mariam, Chhouri, Zahraa, Assi, Alexandre, Helou, Charles, Lee, Hane, Seo, Go Hun, Joumaa, Wissam H., El Shamieh, Said
Publicado 2022

An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial non-autoimmune hyperthyroidism

por Shin, Jung Hyun, Seo, Go Hun, Oh, Seung Hwan, Chung, Woo Yeong, Kim, Hye Young, Kim, Young Mi, Bae, Mi Hye, Park, Kyung Hee, Kwak, Min Jung
Publicado 2020