Suchergebnisse - "Jang, Woori"

PubPharm (73)

1

Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome

enthalten in: Hematology (Amsterdam, Netherlands) | 2024

von Jang, W. | Ha, D. | Nahm, C. | +4

2

Novel mutation in KIF5A gene associated with hereditary motor and sensory neuropathy and cognitive impairment : a case report and literature review

enthalten in: Acta neurologica Belgica | 2023

von Hong, U. | Lee, J. | Choi, S. | +2

3

Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia

enthalten in: Genes | 2022

von Kim, K. | Kim, T. | Kim, S. | +3

4

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

enthalten in: Genes | 2022

von Han, J. | Jang, W. | Park, J.

5

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy

enthalten in: Clinica chimica acta; international journal of clinical chemistry | 2022

von Yoon Han, J. | Gon Cho, Y. | Park, J. | +1

6

Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants : An End-User's Point of View

enthalten in: International journal of genomics | 2022

von Jang, W. | Park, J. | Chae, H. | +1

7

A Neonate with Autosomal Dominant Pseudohypoaldosteronism Type 1 Due to a Novel Microdeletion of the NR3C2 Gene at 4q31.23

enthalten in: Children (Basel, Switzerland) | 2021

von Kim, S. | Park, D. | Jang, W. | +1

8

A Profile of Glucose-6-Phosphate Dehydrogenase Variants and Deficiency of Multicultural Families in Korea

enthalten in: The Korean journal of parasitology | 2021

von Bahk, Y. | Ahn, S. | Lee, J. | +8

9

A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis

enthalten in: Annals of clinical and laboratory science | 2021

von Jang, W. | Kim, S. | Nahm, C. | +3

10

Seroprevalence of Neutralizing Antibodies against Japanese Encephalitis Virus among Adolescents and Adults in Korea : A Prospective Multicenter Study

enthalten in: Vaccines | 2020

von Kwak, B. | Kwon, Y. | Hong, Y. | +7

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