E-LIB Suche - Ergebnisse für: Gu-Hwan Kim

1

Clinical and molecular characteristics of Korean patients w..:

Yoon, Ji-Hee ; Hwang, Soojin ; Bae, Hyunwoo...
Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

2

Clinical and Genetic Characteristics Associated With Surviv..:

Hwang, Yun Su ; Jo, Sungyang ; Kim, Gu-Hwan...
Journal of Clinical Neurology. 20 (2024) 4 - p. 394 , 2024

Link: https://doi.org/10.3988/..

3

Prenatal diagnosis of congenital adrenal hyperplasia due to..:

Yoon, Ji-Hee ; Hwang, Soojin ; Kim, Ja Hye...
Annals of Pediatric Endocrinology & Metabolism. 29 (2024) 1 - p. 54-59 , 2024

Link: https://doi.org/10.6065/..

4

Lesch–Nyhan syndrome: a case report:

Park, Han Ick ; Kim, Gu-Hwan ; Ahn, Kang-Min
Journal of the Korean Association of Oral and Maxillofacial Surgeons. 49 (2023) 4 - p. 228-232 , 2023

Link: https://doi.org/10.5125/..

5

Molecular basis and genetic testing strategies for diagnosi..:

Kim, Ja Hye ; Kim, Gu-Hwan ; Yoo, Han-Wook.
Annals of Pediatric Endocrinology & Metabolism. 28 (2023) 2 - p. 77-86 , 2023

Link: https://doi.org/10.6065/..

6

THU185 Molecular Etiologic Spectrum Of Patients With 46,XY ..:

Kim, Ja Hye ; Park, Soyoung ; Hwang, Soojin...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

7

Mutation spectrum and frequency of copy number variations o..:

Hye Kim, Ja ; Choi, Yunha ; Hwang, Soojin...
Endocrine Connections. 12 (2023) 5 - p. , 2023

Link: https://doi.org/10.1530/..

8

Clinical outcomes and genotype-phenotype correlations in pa..:

Lee, Nae-yun ; Kim, Ja Hye ; Yoon, Ji-Hee...
Annals of Pediatric Endocrinology & Metabolism. 28 (2023) 3 - p. 184-192 , 2023

Link: https://doi.org/10.6065/..

9

Genotype-phenotype correlations and long-term efficacy of p..:

Choi, Yunha ; Hwang, Soojin ; Kim, Gu-Hwan...
Annals of Pediatric Endocrinology & Metabolism. 27 (2022) 1 - p. 22-29 , 2022

Link: https://doi.org/10.6065/..

10

Phenotypic spectrum of patients with mutations in CHD7: cli..:

Kim, Ja Hye ; Choi, Yunha ; Hwang, Soojin...
Endocrine Connections. 11 (2022) 2 - p. , 2022

Link: https://doi.org/10.1530/..

11

Clinical and genetic features of four patients with Pearson..:

Son, Ji Soo ; Seo, Go Hun ; Kim, Yoon-Myung...
Medicine. 101 (2022) 5 - p. e28793 , 2022

Link: https://doi.org/10.1097/..

12

Unfavorable clinical outcomes in patients with carbamoyl ph..:

Choi, Yunha ; Oh, Arum ; Lee, Yena...
Clinica Chimica Acta. 526 (2022) - p. 55-61 , 2022

Link: https://doi.org/10.1016/..

13

Deciphering Epigenetic Backgrounds in a Korean Cohort with ..:

Kim, Hwa Young ; Shin, Choong Ho ; Lee, Young Ah...
Annals of Laboratory Medicine. 42 (2022) 6 - p. 668-677 , 2022

Link: https://doi.org/10.3343/..

14

Case Report: Mevalonic Aciduria Complicated by Acute Myeloi..:

Kim, Hyery ; Lee, Beom Hee ; Do, Hyo-Sang...
Frontiers in Immunology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

15

Etiologic distribution and clinical characteristics of pedi..:

Kim, Ja Hye ; Lee, Yena ; Choi, Yunha...
BMC Pediatrics. 21 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..