Discovery of human gene function in mouse phenotyping facility at SNU

Soojin Son

한국실험동물학회 학술발표대회 논문집

2019 .01

Prenatal diagnosis of 4p deletion syndrome: A case series report

Kwak ,  Dong Wook ,  Ahn 외 1명

Journal of genetic medicine

2017 .01

Two base pair deletion in IL2 receptor γ gene in NOD/SCID mice induces a highly severe immunodeficiency

Inseon Bak ,  Doo-Jin Kim ,  Hyoung-Chin Kim 외 4명

한국실험동물학회 학술발표대회 논문집

2020 .07

The effect of Importin-11 is in the normal embryonic development

Eun-Kyeung Kim ,  Ju-Young Lee ,  Sang-Mi Cho 외 5명

한국실험동물학회 학술발표대회 논문집

2020 .02

Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion

Zheng Yue ,  Xu Qingfang ,  Lai Wei

Annals of Dermatology

2021 .10

A Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3

Asayeon Choi ,  오자영 ,  김명신 외 2명

Annals of Rehabilitation Medicine

2017 .01

Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development

권순성 ,  김지은 ,  신새암 외 3명

Annals of Laboratory Medicine

2018 .01

Prenatal diagnosis of 5p deletion syndrome: A case series report

Han ,  You Jung ,  Kwak 외 1명

Journal of genetic medicine

2017 .01

Functional annotation of metabolic syndrome-related genes through mouse phenotyping

Je Kyung Seong

한국실험동물학회 학술발표대회 논문집

2016 .08

Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome

이승준 ,  채종희 ,  이정애 외 5명

Annals of Laboratory Medicine

2015 .01

Recent activity of mouse metabolic phenotyping service at Korea Mouse Phenotyping Center (KMPC)

Hye Sun Go ,  Ji Min Choi ,  Seul Gi Yoon 외 7명

한국실험동물학회 학술발표대회 논문집

2021 .07

고해상도 염색체 마이크로어레이법으로 확인된 4번 염색체 장완 근위부 결실의 특징: 증례보고 및 문헌검토

정우영 ,  이선주 ,  김혜란 외 1명

Laboratory Medicine Online

2020 .01

X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female

Alaina P. Vidma ,  B ,  ian Miyazaki 외 4명

대한골대사학회지

2017 .01

De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case

Kim ,  Ha-Su ,  Han 외 3명

Clinical and Experimental Pediatrics

2015 .01

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

박해연 ,  김명신 ,  장우리 외 1명

Annals of Laboratory Medicine

2017 .01

A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia

Jin Kyoung Lee ,  정성훈 ,  Yong-Sung Choi 외 1명

Perinatology

2016 .01

Principles of mouse phenotyping

Shigeha ,  u Wakana

한국실험동물학회 학술발표대회 논문집

2016 .08

Male Tars2 gene-deficient mice shows reduced learning and memory ability

Jieun Kim ,  Eun-Kyoung Kim ,  Hae-Rim Kim 외 9명

한국실험동물학회 학술발표대회 논문집

2020 .07

A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism

F ,  ancesco Cavallie ,  i

Journal Of Movement Disorders

2024 .04

Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

Hyun ,  Ju Kyung ,  Jung 외 1명

Journal of genetic medicine

2018 .01