Publications:

Patient-Derived Organoid Models of Human Neuroendocrine Carcinoma.

Frontiers In Endocrinology

Dijkstra, Krijn K KK; van den Berg, José G JG; Weeber, Fleur F; van de Haar, Joris J; Velds, Arno A; Kaing, Sovann S; Peters, Dennis D G C DDGC; Eskens, Ferry A L M FALM; de Groot, Derk-Jan A DA; Tesselaar, Margot E T MET; Voest, Emile E EE

Publication Date: 2021

Variant appearance in text: GLA: 812G>A; Gly271Asp

PubMed Link: 33776923

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

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In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development

Lenders, Malte M; Stappers, Franciska F; Brand, Eva E

Publication Date: 2020-12-11

Variant appearance in text: GLA: G271D

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 812G>A; G271D

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: G271D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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