Works matching AU Go Hun Seo

Results: 59

Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors.

Published in:

Journal of Neuro-Oncology, 2018, v. 138, n. 1, p. 55, doi. 10.1007/s11060-018-2765-0

By:

Seo, Go Hun;
Choi, Jin-Ho;
Kim, Yoon-Myung;
Koh, Kyung-Nam;
Im, Ho Joon;
Ra, Young Shin;
Yoo, Han-Wook

Publication type:

Article

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Published in:

Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00464-x

By:

Seo, Go Hun;
Lee, Hane;
Lee, Jungsul;
Han, Heonjong;
Cho, You Kyung;
Kim, Minji;
Choi, Yunha;
Choi, Jeongmin;
Choi, In Hee;
Rhie, Seonkyeong;
Chae, Kyu Young;
Kim, Yoo-Mi;
Cheon, Chong Kun;
Kim, Su Jin;
Lee, Jieun;
Kang, Eungu;
Byeon, Jung Hye;
Yu, Hee Joon;
Shin, Young-Lim;
Oh, Arum

Publication type:

Article

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

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3724, doi. 10.3390/jcm9113724

By:

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

Publication type:

Article

Adult-onset Krabbe disease manifesting as Charcot-Marie-Tooth disease.

Published in:

Neurology Asia, 2024, v. 29, n. 1, p. 259, doi. 10.54029/2024kwp

By:

Jin San Lee;
Jin Ho Jung;
Go Hun Seo;
Eunkyoung You;
Seong-il Oh

Publication type:

Article

Adult-onset Krabbe disease manifesting as CharcotMarie-Tooth disease.

Published in:

Neurology Asia, 2024, v. 29, n. 1, p. 259, doi. 10.54029/2024kwp

By:

Lee, Jin San;
Jung, Jin Ho;
Seo, Go Hun;
You, Eunkyoung;
Oh, Seong-il

Publication type:

Article

Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia‐Otocephaly Complex.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 7, p. 1, doi. 10.1002/ajmg.a.64045

By:

Corona‐Rivera, Jorge Román;
Cortés‐Pastrana, Rocio Carolina;
Navia‐Espinoza, Natalia;
Claro‐Marín, Alexandra María;
Martínez‐Torres, Ana Fátima;
Peña‐Padilla, Christian;
Bobadilla‐Morales, Lucina;
Corona‐Rivera, Alfredo;
Ryu, Seung Woo;
Seo, Go Hun

Publication type:

Article

High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2599, doi. 10.1002/ajmg.a.62892

By:

Freire, Bruna Lucheze;
Homma, Thais Kataoka;
Lerario, Antônio Marcondes;
Seo, Go Hun;
Han, Heonjong;
de Assis Funari, Mariana Ferreira;
Gomes, Nathalia Lisboa;
Rosemberg, Carla;
Krepischi, Ana Cristina Victorino;
de Andrade Vasques, Gabriela;
Malaquias, Alexsandra Christianne;
de Lima Jorge, Alexander Augusto

Publication type:

Article

Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2693, doi. 10.1002/ajmg.a.62856

By:

Khan, Atta Ullah;
Khan, Ibrar;
Khan, Muhammad Ismail;
Latif, Muhammad;
Siddiqui, Muhammad Imran;
Khan, Shafi Ullah;
Htar, Thet Thet;
Wahid, Ghazala;
Ullah, Ikram;
Bibi, Fehmida;
Khan, Asifullah;
Naseer, Muhammad Imran;
Seo, Go Hun;
Jelani, Musharraf

Publication type:

Article

Undiagnosed disease program in South Africa: Results from first 100 exomes.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2684, doi. 10.1002/ajmg.a.62847

By:

Moosa, Shahida;
Coetzer, Kimberly Christine;
Lee, Eugene;
Seo, Go Hun

Publication type:

Article

Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia.

Published in:

Neurological Sciences, 2025, v. 46, n. 6, p. 2843, doi. 10.1007/s10072-025-08022-z

By:

Spiliopoulos, Kanellos C.;
Veltsista, Dimitra;
Veltsou, Eirini;
Tzimogianni, Valentini;
Seo, Go Hun;
Kim, JiHye;
Lygerou, Zoi;
Chroni, Elisabeth

Publication type:

Article

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71407-1

By:

Khan, Hina;
Muzaffar, Fariha;
Salman, Midhat;
Bashir, Rasheeda;
Seo, Go Hun;
Naz, Sadaf

Publication type:

Article

Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65227-6

By:

Reyna-Fabián, Miriam E.;
Fernández-Hernández, Liliana;
Enríquez-Flores, Sergio;
Apam-Garduño, David;
Prado-Larrea, Carolina;
Seo, Go Hun;
Khang, Rin;
Cortés-González, Vianney

Publication type:

Article

Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 705, doi. 10.1111/cge.14725

By:

Essid, Miriam;
Karoui, Sana;
Zribi, Mouna;
Ben Younes, Thouraya;
Januel, Louis;
Lafont, Estelle;
Labalme, Audrey;
Ben Hafsa, Meriem;
Hun Seo, Go;
Khatrouch, Safa;
Boudabous, Hela;
Ben Chehida, Amel;
Sanlaville, Damien;
Jilani, Houweyda;
Benjemaa, Lamia;
Kraoua, Ichraf;
Lesca, Gaetan;
Chatron, Nicolas

Publication type:

Article

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.

Published in:

Clinical Genetics, 2024, v. 105, n. 2, p. 228, doi. 10.1111/cge.14448

By:

Ooi, Joshua Chin Ern;
Azman, Amelia;
Chan, Mei‐Yan;
Toh, Emilia Sheau Yuin;
Seo, Go Hun;
Kim, Ji Hye;
Yakob, Yusnita;
Chia, Yuen Kang

Publication type:

Article

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 298, doi. 10.1111/cge.14382

By:

Jung, Jiwon;
Lee, Joo Hoon;
Seo, Go Hun;
Keum, Changwon;
Kang, Hee Gyung;
Cho, Heeyeon;
Lee, Hajeong;
Park, Su‐Kil;
Baek, Chung Hee;
Han, Ro;
Lee, Sang Taek;
Cho, Min Hyun;
Yim, Hyung Eun;
Koo, Ja wook;
Lee, Beom Hee

Publication type:

Article

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 562, doi. 10.1111/cge.13848

By:

Seo, Go Hun;
Kim, Taeho;
Choi, In Hee;
Park, Jung‐young;
Lee, Jungsul;
Kim, Sehwan;
Won, Dhong‐gun;
Oh, Arum;
Lee, Yena;
Choi, Jeongmin;
Lee, Hajeong;
Kang, Hee Gyung;
Cho, Hee Yeon;
Cho, Min Hyun;
Kim, Yoon Jeon;
Yoon, Young Hee;
Eun, Baik‐Lin;
Desnick, Robert J.;
Keum, Changwon;
Lee, Beom Hee

Publication type:

Article

Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 5, p. 1, doi. 10.1007/s10875-024-01724-7

By:

Tomomasa, Dan;
Lee, Beom Hee;
Hirata, Yuki;
Inoue, Yuzaburo;
Majima, Hidetaka;
Imanaka, Yusuke;
Asano, Takaki;
Katakami, Takashi;
Lee, Jina;
Hijikata, Atsushi;
Worakitchanon, Wittawin;
Yang, Xi;
Wang, Xiaowen;
Watanabe, Akira;
Kamei, Katsuhiko;
Kageyama, Yasufumi;
Seo, Go Hun;
Fujimoto, Akihiro;
Casanova, Jean-Laurent;
Puel, Anne

Publication type:

Article

Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02748-9

By:

Chang, Yin-Hsi;
Kang, Eugene Yu-Chuan;
Liu, Laura;
Jenny, Laura A.;
Khang, Rin;
Seo, Go Hun;
Lee, Hane;
Chen, Kuan-Jen;
Wu, Wei-Chi;
Hsiao, Meng-Chang;
Wang, Nan-Kai

Publication type:

Article

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16661-x

By:

Kim, So Young;
Kim, Bong Jik;
Oh, Doo Yi;
Han, Jin Hee;
Yi, Nayoung;
Kim, Namju Justin;
Park, Moo Kyun;
Keum, Changwon;
Seo, Go Hun;
Choi, Byung Yoon

Publication type:

Article

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

Published in:

Genes, 2021, v. 12, n. 10, p. 1583, doi. 10.3390/genes12101583

By:

Phetthong, Tim;
Khongkrapan, Arthaporn;
Jinawath, Natini;
Seo, Go-Hun;
Wattanasirichaigoon, Duangrurdee

Publication type:

Article

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

Published in:

Genes, 2021, v. 12, n. 5, p. 675, doi. 10.3390/genes12050675

By:

Kim, Yoon-Jeon;
Kim, You-Na;
Yoon, Young-Hee;
Seo, Eul-Ju;
Seo, Go-Hun;
Keum, Changwon;
Lee, Beom-Hee;
Lee, Joo-Yong;
Woo, Se Joon

Publication type:

Article

De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.

Published in:

Genes, 2021, v. 12, n. 2, p. 284, doi. 10.3390/genes12020284

By:

Lee, Yeonmi;
Kim, Taeho;
Lee, Miju;
So, Seongjun;
Karagozlu, Mustafa Zafer;
Seo, Go Hun;
Choi, In Hee;
Lee, Peter C. W.;
Kim, Chong-Jai;
Kang, Eunju;
Lee, Beom Hee

Publication type:

Article

Genetic heterogeneity of cardiomyopathy and its correlation with patient care.

Published in:

BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01639-z

By:

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

Publication type:

Article

Congenital Stationary Night Blindness: Clinical and Genetic Features.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14965, doi. 10.3390/ijms232314965

By:

Kim, Angela H.;
Liu, Pei-Kang;
Chang, Yin-Hsi;
Kang, Eugene Yu-Chuan;
Wang, Hung-Hsuan;
Chen, Nelson;
Tseng, Yun-Ju;
Seo, Go Hun;
Lee, Hane;
Liu, Laura;
Chao, An-Ning;
Chen, Kuan-Jen;
Hwang, Yih-Shiou;
Wu, Wei-Chi;
Lai, Chi-Chun;
Tsang, Stephen H.;
Hsiao, Meng-Chang;
Wang, Nan-Kai

Publication type:

Article

A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy.

Published in:

2023

By:

Kim, Seung Ho;
Seo, Go Hun;
Oh, Seung Hwan;
Chung, Woo Yeong;
Yu, Jeesuk

Publication type:

Letter

Phenotypic and Genetic Complexity in Pediatric Movement Disorders.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.829558

By:

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

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.864228

By:

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

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.729980

By:

Dong Jun Ha;
Jisun Park;
Go Hun Seo;
Kyoungyeul Lee;
Young Se Kwon;
Ji Eun Lee;
Su Jin Kim

Publication type:

Article

A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature.

Published in:

Ophthalmic Genetics, 2022, v. 43, n. 3, p. 378, doi. 10.1080/13816810.2021.2010773

By:

Chiu, Ning;
Lee, Winston;
Liu, Pei-Kang;
Levi, Sarah R;
Wang, Hung-Hsi;
Chen, Nelson;
Kang, Eugene Yu-Chuan;
Seo, Go Hun;
Lee, Hane;
Liu, Laura;
Wu, Wei-Chi;
Tsai, Shawn H.;
Wang, Nan-Kai

Publication type:

Article

DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.

Published in:

Annals of Clinical & Laboratory Science, 2023, v. 53, n. 2, p. 325

By:

Eu Gene Park;
Go Hun Seo;
Aram Yang

Publication type:

Article

A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.

Published in:

Annals of Clinical & Laboratory Science, 2022, v. 52, n. 3, p. 488

By:

Jeong Ho Ahn;
Seung Hwan Oh;
Ji Kyoung Park;
Kwang Hoon Kim;
Jeong Eun Lee;
Woo Yeong Chung;
Keun Soo Lee;
Go Hun Seo;
Bo Lyun Lee

Publication type:

Article

Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease.

Published in:

Congenital Heart Disease, 2022, v. 17, n. 6, p. 653, doi. 10.32604/chd.2022.021580

By:

Jun Sung Park;
Go Hun Seo;
Yunha Choi;
Soojin Hwang;
Minji Kang;
Hyo-Sang Do;
Young-Hwue Kim;
Jeong Jin Yu;
Ellen Ai-Rhan Kim;
Euiseok Jung;
Byong Sop Lee;
Jae Suk Baek;
Beom Hee Lee

Publication type:

Article

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.

Published in:

2022

By:

Chen, Nelson;
Lee, Hane;
Kim, Angela H.;
Liu, Pei-Kang;
Kang, Eugene Yu-Chuan;
Tseng, Yun-Ju;
Seo, Go Hun;
Khang, Rin;
Liu, Laura;
Chen, Kuan-Jen;
Wu, We-Chi;
Hsiao, Meng-Chang;
Wang, Nan-Kai

Publication type:

journal article

Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, p. S25, doi. 10.6065/apem.2244052.026

By:

Mi Ra Kim;
Eun-Gyong Yoo;
Seonkyeong Rhie;
Go Hun Seo;
Mo Kyung Jung

Publication type:

Article

An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2020, v. 25, n. 4, p. 282, doi. 10.6065/apem.2040076.038

By:

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

Publication type:

Article

Growth hormone therapy in patients with Noonan syndrome.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 4, p. 176, doi. 10.6065/apem.2018.23.4.176

By:

Go Hun Seo;
Han-Wook Yoo

Publication type:

Article

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

Published in:

2018

By:

Dai Jung;
Go Hun Seo;
Yoon-Myung Kim;
Jin-Ho Choi;
Han-Wook Yoo

Publication type:

Case Study

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

Published in:

2015

By:

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

Publication type:

Case Study

Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases.

Published in:

Endocrine Journal, 2018, v. 65, n. 3, p. 307, doi. 10.1507/endocrj.ej17-0268

By:

Yoo-Mi Kim;
Go Hun Seo;
Yoon-Myung Kim;
Jin-Ho Choi;
Han-Wook Yoo

Publication type:

Article

Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.

Published in:

Annals of Hematology, 2025, v. 104, n. 3, p. 1633, doi. 10.1007/s00277-025-06257-6

By:

Elbadry, Mahmoud I.;
Abdelkreem, Elsayed;
Tawfeek, Ahmed;
Seo, Go Hun;
Aziz, Shereen Philip

Publication type:

Article

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.

Published in:

Human Genetics, 2024, v. 143, n. 3, p. 311, doi. 10.1007/s00439-024-02649-2

By:

Redfield, Shelby E.;
De-la-Torre, Pedro;
Zamani, Mina;
Wang, Hanjun;
Khan, Hina;
Morris, Tyler;
Shariati, Gholamreza;
Karimi, Majid;
Kenna, Margaret A.;
Seo, Go Hun;
Xu, Hongen;
Lu, Wei;
Naz, Sadaf;
Galehdari, Hamid;
Indzhykulian, Artur A.;
Shearer, A. Eliot;
Vona, Barbara

Publication type:

Article

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-024-00455-3

By:

Han, Heonjong;
Seo, Go Hun;
Hyun, Seong-In;
Kwon, Kisang;
Ryu, Seung Woo;
Khang, Rin;
Lee, Eugene;
Kim, JiHye;
Song, Yongjun;
Jeong, Won Chan;
Han, Joohyun;
Kim, Dong-wook;
Yang, Soyeon;
Lee, Sohyun;
Jang, Sohyun;
Lee, Jungsul;
Lee, Hane

Publication type:

Article

Case Report: The first Korean familial case of BCAP31 -related deafness, dystonia, and cerebral hypomyelination.

Published in:

Frontiers in Pediatrics, 2025, p. 1, doi. 10.3389/fped.2024.1488095

By:

Suh, Yoong-A;
Hwang, Jisun;
Seo, Go Hun;
Khang, Rin;
Lee, Jang Hoon;
Park, Moon Sung;
Sohn, Young Bae

Publication type:

Article

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-75902-z

By:

Kim, You Na;
Song, Joon Seon;
Oh, Seak Hee;
Kim, Yoon Jeon;
Yoon, Young Hee;
Seo, Eul-Ju;
Seol, Chang Ahn;
Lee, Sae-Mi;
Choi, Jong-Moon;
Seo, Go Hun;
Keum, Changwon;
Lee, Beom Hee;
Lee, Joo Yong

Publication type:

Article

Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.

Published in:

Molecular Neurobiology, 2023, v. 60, n. 7, p. 3758, doi. 10.1007/s12035-023-03311-0

By:

Chaves, Luiza D.;
Carvalho, Laura M. L.;
Tolezano, Giovanna C.;
Pires, Sara F.;
Costa, Silvia S.;
de Scliar, Marília O.;
Giuliani, Liane de R.;
Bertola, Debora R.;
Santos-Rebouças, Cíntia B.;
Seo, Go Hun;
Otto, Paulo A.;
Rosenberg, Carla;
Vianna-Morgante, Angela M.;
Krepischi, Ana C. V.

Publication type:

Article

Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation.

Published in:

Childhood Kidney Diseases, 2021, v. 25, n. 2, p. 128, doi. 10.3339/jkspn.2021.25.2.128

By:

So Jeong Kim;
Jeong Eun Lee;
Hyun Duck Kwak;
Mi Seon Kang;
Seong Ah Yu;
Go Hun Seo;
Seung Hwan Oh;
Woo Yeong Chung

Publication type:

Article

High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients.

Published in:

Frontiers in Cardiovascular Medicine, 2024, p. 1, doi. 10.3389/fcvm.2024.1424551

By:

Seung Woo Ryu;
Won Chan Jeong;
Geu Ru Hong;
Jung Sun Cho;
Soo Yong Lee;
Hyungseop Kim;
Jeong Yoon Jang;
Sun Hwa Lee;
Dae-Hwan Bae;
Jae Yeong Cho;
Ji Hee Kim;
Kyung-Hee Kim;
Jang Won Son;
Beomman Han;
Go Hun Seo;
Hane Lee

Publication type:

Article

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Published in:

PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0255011

By:

Yun, UnKyu;
Lee, Seung-Ah;
Choi, Won Ah;
Kang, Seong-Woong;
Seo, Go Hun;
Lee, Jung Hwan;
Park, Goeun;
Lee, Sujee;
Choi, Young-Chul;
Park, Hyung Jun

Publication type:

Article

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01104-9

By:

Lee, Yena;
Choi, Yunha;
Seo, Go Hun;
Kim, Gu-Hwan;
Keum, Changwon;
Kim, Yoo-Mi;
Do, Hyo-Sang;
Choi, Jeongmin;
Choi, In Hee;
Yoo, Han-Wook;
Lee, Beom Hee

Publication type:

Article

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.

Published in:

BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01026-6

By:

Jung, Jiwon;
Lee, Joo Hoon;
Park, Young Seo;
Seo, Go Hun;
Keum, Changwon;
Kang, Hee Gyung;
Lee, Hajeong;
Lee, Sang Koo;
Lee, Sang Taek;
Cho, Heeyeon;
Lee, Beom Hee

Publication type:

Article