Resultados da pesquisa - Dong-Kyu Jin

Systematic review of the clinical and genetic aspects of Prader-Willi syndrome Por Dong Kyu Jin

Connect to this object online.

Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment Por Dong-Kyu Jin

Connect to this object online.

Guidelines for genetic skeletal dysplasias for pediatricians Por Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

Prader-Willi syndrome: an update on obesity and endocrine problems Por Su Jin Kim, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

Etiological trends in male central precocious puberty Por Jisun Lee, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases Por Hyeseon Kim, Jinsup Kim, Rimm Huh, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis Por Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome Por Min-Sun Kim, Jiyeon Kim, Joongbum Cho, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

A case of 18p deletion syndrome with panhypopituitarism Por Aram Yang, Jinsup Kim, Sung Yoon Cho, Ji-Eun Lee, Hee-Jin Kim, Dong-Kyu Jin

Connect to this object online.

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report Por Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

a novel variant of gene in a neonate with congenital hypoparathyroidism Por Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko

Connect to this object online.

A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets Por Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing Por Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin

Connect to this object online.

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center Por Yangho Yoo, Mi Sun Chang, Jieun Lee, Sung Yoon Cho, Sung Won Park, Dong-Kyu Jin, Hyung-Doo Park

Connect to this object online.

Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis Por Hyojung Park, Min-Sun Kim, Jiyeon Kim, Sae-Mi Lee, Sung Yoon Cho, Eun-Gyong Yoo, Dong-Kyu Jin

Connect to this object online.

A novel gene mutation in a Korean patient with Kabuki syndrome Por Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin

Connect to this object online.

Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity Por Minji Im, Ari Song, Jiyeon Kim, Min-Sun Kim, Sae-Mi Lee, Mi Jin Kim, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? Por Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino, Raffaele Falsaperla

Connect to this object online.

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue Por Hosun Bae, Min-Sun Kim, Hyojung Park, Ja-Hyun Jang, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin

Connect to this object online.

Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty Por Doosoo Kim, Sung-Yoon Cho, Se-Hyun Maeng, Eun Sang Yi, Yu Jin Jung, Sung Won Park, Young Bae Sohn, Dong-Kyu Jin

Connect to this object online.