E-LIB Suche - Ergebnisse für: Kim, Man Jin

1

Diagnostic uplift through the implementation of short tande..:

Yoon, Jihoon G. ; Lee, Seungbok ; Cho, Jaeso...
European Journal of Human Genetics. 32 (2024) 5 - p. 584-587 , 2024

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

2

Genetic and Clinical Profiling of Korean Patients with Birt..:

Kim, Jisoo G. ; Choi, Sun Mi ; Sung, Hobin...
Laboratory Medicine Online. 14 (2024) 2 - p. 127-132 , 2024

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

3

Utility of Next-Generation Sequencing-Based Chimerism Analy..:

Lee, Heerah ; Chae, Seung-Won ; Cho, Sung Im...
International Journal of Molecular Sciences. 25 (2024) 5 - p. 2811 , 2024

Link: https://doi.org/10.3390/..

4

Characteristics of chronic enteropathy associated with SLCO..:

Lim, Jin Gyu ; Ko, Jae Sung ; Ko, Jung Min...
BMC Pediatrics. 24 (2024) 1 - p. , 2024

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

5

The Korean Genetic Diagnosis Program for Rare Disease Phase..:

Kim, Man Jin ; Kim, Boram ; Lee, Heerah...
European Journal of Human Genetics. 31 (2023) 10 - p. 1147-1153 , 2023

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

6

First Korean Case of Weaver Syndrome Along with Neuroblasto..:

Oh, Inseong ; Kim, Boram ; Lee, Jee-Soo...
Laboratory Medicine Online. 13 (2023) 1 - p. 48-52 , 2023

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

7

ITDetect: a method to detect internal tandem duplication of..:

Lee, Sungyoung ; Sun, Choong-Hyun ; Jang, Heejun...
BMC Bioinformatics. 24 (2023) 1 - p. , 2023

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

8

Clinical applications of next-generation sequencing in the ..:

Yoon, Jihoon G. ; Kim, Man Jin ; Kwon, Yong Jin.
Journal of the Korean Medical Association. 66 (2023) 10 - p. 613-623 , 2023

Link: https://doi.org/10.5124/..

9

The spectrum of imaging manifestations of Gorham–Stout dise..:

Lee, Yuna ; Lee, Seunghyun ; Hur, Saebeom...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

10

The First Case of Congenital Nephrogenic Diabetes Insipidus..:

Kim, Boram ; Ahn, Yo Han ; Park, Jae Hyeon...
Annals of Laboratory Medicine. 44 (2023) 3 - p. 303-305 , 2023

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

11

First Cases of Spinocerebellar Ataxia 42 in Two Korean Fami..:

Son, Hyoshin ; Yoon, Jihoon G. ; Kim, Man Jin..
Journal of Movement Disorders. 16 (2023) 1 - p. 110-113 , 2023

Link: https://doi.org/10.14802..

12

Epilepsy phenotype and gene ontology analysis of the 129 ge..:

Ko, Young Jun ; Kim, Soo Yeon ; Lee, Seungbok...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

13

Exonic copy number variations in rare genetic disorders:

Kim, Man Jin
Journal of Genetic Medicine. 20 (2023) 2 - p. 46-51 , 2023

Link: https://doi.org/10.5734/..

14

Coffin-Siris Syndrome: Genotype-Phenotype Clustering and No..:

Jang, Joowon ; Chae, Seung Won ; Shin, Ho Seop...
Laboratory Medicine Online. 13 (2023) 2 - p. 91-96 , 2023

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

15

Expansion of clinico-genetic spectrum of PRDX3 disease: a l..:

Cho, Jaeso ; Yoon, Jihoon G ; Lee, Seungbok...
Brain Communications. 5 (2023) 5 - p. , 2023

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