Publications:

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)

Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL

Publication Date: 2022-03-26

Variant appearance in text: HP: 538G>T

PubMed Link: 35346031

Variant Present in the following documents:

• 10020_2022_464_MOESM4_ESM.xlsx, sheet 1

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Prediction of Mycobacterium tuberculosis pyrazinamidase function based on structural stability, physicochemical and geometrical descriptors.

Plos One

Supo-Escalante, Rydberg Roman RR; Médico, Aldhair A; Gushiken, Eduardo E; Olivos-Ramírez, Gustavo E GE; Quispe, Yaneth Y; Torres, Fiorella F; Zamudio, Melissa M; Antiparra, Ricardo R; Amzel, L Mario LM; Gilman, Robert H RH; Sheen, Patricia P; Zimic, Mirko M

Publication Date: 2020

Variant appearance in text: HP: V180F

PubMed Link: 32735615

Variant Present in the following documents:

• Main text

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