Search Results - Sung Yoon Cho
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1
Guidelines for genetic skeletal dysplasias for pediatricians by Sung Yoon Cho, Dong-Kyu Jin
Published 2015Call Number: Loading…Connect to this object online.
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2
A Korean boy with a mutation who presented with overgrowth, intellectual disability, and autism by Chiwoo Kim, Eu-seon Noh, Sung Yoon Cho
Published 2023Call Number: Loading…Connect to this object online.
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3
Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis by Eu-Seon Noh, Chiwoo Kim, Sung Yoon Cho
Published 2023Call Number: Loading…Connect to this object online.
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4
Prader-Willi syndrome: an update on obesity and endocrine problems by Su Jin Kim, Sung Yoon Cho, Dong-Kyu Jin
Published 2021Call Number: Loading…Connect to this object online.
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5
A Case of Mitochondrial Trifunctional Protein Deficiency with Variants Diagnosed Using Whole-Exome Sequencing by Chan Kim, Dajeong Lee, Jiwon Lee, Sung Yoon Cho, Jeehun Lee
Published 2021Call Number: Loading…Connect to this object online.
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6
Etiological trends in male central precocious puberty by Jisun Lee, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Published 2018Call Number: Loading…Connect to this object online.
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7
Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases by Hyeseon Kim, Jinsup Kim, Rimm Huh, Sung Yoon Cho, Dong-Kyu Jin
Published 2015Call Number: Loading…Connect to this object online.
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8
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis by Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Published 2017Call Number: Loading…Connect to this object online.
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9
Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome by Min-Sun Kim, Jiyeon Kim, Joongbum Cho, Sung Yoon Cho, Dong-Kyu Jin
Published 2021Call Number: Loading…Connect to this object online.
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10
A case of 18p deletion syndrome with panhypopituitarism by Aram Yang, Jinsup Kim, Sung Yoon Cho, Ji-Eun Lee, Hee-Jin Kim, Dong-Kyu Jin
Published 2019Call Number: Loading…Connect to this object online.
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11
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report by Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin
Published 2017Call Number: Loading…Connect to this object online.
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12
A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets by Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin
Published 2018Call Number: Loading…Connect to this object online.
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13
Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation by Jiyeon Kim, Eu Seon Noh, Min-Sun Kim, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho
Published 2024Call Number: Loading…Connect to this object online.
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14
An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing by Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Published 2017Call Number: Loading…Connect to this object online.
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15
Compound heterozygous variants in the gene in a Korean boy with sitosterolemia by Ga young Bae, Insung Kim, Juyoung Sung, JiHoon Hwang, Min-Sun Kim, Ji-Hye Park, Sung Yoon Cho
Published 2024Call Number: Loading…Connect to this object online.
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16
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center by Yangho Yoo, Mi Sun Chang, Jieun Lee, Sung Yoon Cho, Sung Won Park, Dong-Kyu Jin, Hyung-Doo Park
Published 2013Call Number: Loading…Connect to this object online.
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17
Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis by Hyojung Park, Min-Sun Kim, Jiyeon Kim, Sae-Mi Lee, Sung Yoon Cho, Eun-Gyong Yoo, Dong-Kyu Jin
Published 2022Call Number: Loading…Connect to this object online.
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18
A novel gene mutation in a Korean patient with Kabuki syndrome by Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
Published 2013Call Number: Loading…Connect to this object online.
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19
Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity by Minji Im, Ari Song, Jiyeon Kim, Min-Sun Kim, Sae-Mi Lee, Mi Jin Kim, Sung Yoon Cho, Dong-Kyu Jin
Published 2022Call Number: Loading…Connect to this object online.
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20
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? by Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino, Raffaele Falsaperla
Published 2019Call Number: Loading…Connect to this object online.
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