Suchergebnisse - "Jang, Shin Yi"

PubPharm (11)

1

Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing

enthalten in: Molecular syndromology | 2023

von Park, J. | Chang, S. | Jang, S. | +3

2

Severe dysplasminogenemia due to homozygous PLG Ala620Thr variant in a Korean woman without a history of venous thromboembolism : A case report and literature review

enthalten in: Medicine | 2022

von Lee, B. | Kim, S. | Lee, J. | +6

3

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly

enthalten in: Scientific reports | 2021

von Park, J. | Kim, E. | Lee, D. | +9

4

A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm

enthalten in: Molecular genetics & genomic medicine | 2019

von Park, J. | Park, J. | Jang, S. | +4

5

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene

enthalten in: Annals of laboratory medicine | 2017

von Oh, J. | Song, J. | Park, J. | +3

6

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome

enthalten in: American journal of human genetics | 2015

von Jang, M. | Kim, E. | Now, H. | +23

7

Successful bosentan therapy for pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia

enthalten in: Heart and vessels | 2011

von Chang, S. | Jang, S. | Ki, C. | +2

8

Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation

enthalten in: Annals of clinical and laboratory science | 2010

von Yoo, E. | Choi, S. | Jang, S. | +7

9

Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia

enthalten in: Journal of Korean medical science | 2009

von Lee, S. | Kim, J. | Jang, S. | +5

10

A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections

enthalten in: Heart and vessels | 2008

von Lee, S. | Kim, J. | Jang, S. | +3