Publications:

NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Diagnostics (Basel, Switzerland)

Esposito, Maria Valeria MV; Comegna, Marika M; Cernera, Gustavo G; Gelzo, Monica M; Paparo, Lorella L; Berni Canani, Roberto R; Castaldo, Giuseppe G

Publication Date: 2021-02-08

Variant appearance in text: SI: 559G>T

PubMed Link: 33567694

Variant Present in the following documents:

• Main text
• diagnostics-11-00262.pdf

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: SI: 559G>T

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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The role of gelsolin domain 3 in familial amyloidosis (Finnish type).

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zorgati, Habiba H; Larsson, Mårten M; Ren, Weitong W; Sim, Adelene Y L AYL; Gettemans, Jan J; Grimes, Jonathan M JM; Li, Wenfei W; Robinson, Robert C RC

Publication Date: 2019-07-09

Variant appearance in text: SI: D187Y

PubMed Link: 31243148

Variant Present in the following documents:

• Main text
• pnas.201902189.pdf

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