E-LIB Suche - Ergebnisse für: Jang, Jahyun

1

Mitochondrial Retinopathy by MT-ATP6 Variant Revealed by Wh..:

Choi, Jaehwan ; Hwang, Sungsoon ; Jang, Ja-Hyun.
Korean Journal of Ophthalmology. , 2024

Link: https://doi.org/10.3341/..

2

Short tandem repeat expansions in cortical layer‐specific g..:

Kim, Jae Hyun ; Koh, In Gyeong ; Lee, Hyeji...
Psychiatry and Clinical Neurosciences. 78 (2024) 7 - p. 405-415 , 2024

Link: https://doi.org/10.1111/..

3

Clinical feature, GALC variant spectrum, and genotype–pheno..:

Hwang, Narae ; Kim, Sang‐Mi ; Kim, Young‐Gon...
Clinical Genetics. 106 (2024) 2 - p. 150-160 , 2024

Link: https://doi.org/10.1111/..

4

Cartilage-hair hypoplasia–anauxetic dysplasia spectrum diso..:

Park, Ju Heon ; Im, Minji ; Kim, Yae-Jean...
Medicine. 103 (2024) 21 - p. e37247 , 2024

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

5

Clinical Practice Guideline for Blood-based Circulating Tum..:

Lee, Jee-Soo ; Cho, Eun Hye ; Kim, Boram...
Annals of Laboratory Medicine. 44 (2024) 3 - p. 195-209 , 2024

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

6

Performance evaluation of the SMG HHV-6 Q Real-Time PCR Kit..:

Kim, Tae Yeul ; Park, Min-Seung ; Yun, Sun Ae...
Microbiology Spectrum. 12 (2024) 4 - p. , 2024

Link: https://doi.org/10.1128/..

7

Overcoming challenges associated with identifying FBN1 deep..:

Kim, Jee Ah ; Jang, Mi‐Ae ; Jang, Shin Yi...
Journal of Clinical Laboratory Analysis. 38 (2024) 1-2 - p. , 2024

Link: https://doi.org/10.1002/..

8

Enhancing the Reliability of PMP22 Copy Number Variation De..:

Lee, Jong Kwon ; Kwon, Hyemi ; Park, Jong-Ho...
The Journal of Molecular Diagnostics. 26 (2024) 4 - p. 304-309 , 2024

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

9

CRYAB stop-loss variant causes rare syndromic dilated cardi..:

Ha, Changhee ; Kim, Darae ; Bak, Minjung...
Journal of Human Genetics. , 2024

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

10

Clinical Application Guidelines for Blood-Based Circulating..:

Lee, Jee-Soo ; Cho, Eun Hye ; Kim, Boram...
Laboratory Medicine Online. 14 (2024) 3 - p. 176-190 , 2024

Link: https://doi.org/10.47429..

11

Clinical Application of ABO Genotyping: 5-Year Experience f..:

Lee, Hyun-Woo ; Jeong, In Hwa ; Seo, Ji-Young..
The Korean Journal of Blood Transfusion. 34 (2023) 1 - p. 12-20 , 2023

Link: https://doi.org/10.17945..

12

Whole-genome sequencing in clinically diagnosed Charcot–Mar..:

Kim, Young-gon ; Kwon, Hyemi ; Park, Jong-ho...
Brain Communications. 5 (2023) 3 - p. , 2023

Link: https://doi.org/10.1093/..

13

First female Korean child with Coffin-Lowry syndrome: a nov..:

Song, Ari ; Im, Minji ; Kim, Min-Sun...
Annals of Pediatric Endocrinology & Metabolism. 28 (2023) 1 - p. 67-72 , 2023

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

14

Optimization of extraction-free protocols for SARS-CoV-2 de..:

Kang, Minhee ; Jeong, Eunjung ; Kim, Ji-Yeon...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

15

Enrichment of titin-truncating variants in exon 327 in dila..:

Kim, Young-gon ; Ha, Changhee ; Shin, Sunghwan...
Frontiers in Genetics. 13 (2023) - p. , 2023

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