Publications:

"iPSC-derived liver organoids and inherited bleeding disorders: Potential and future perspectives".

Frontiers In Physiology

Roman, Giacomo G; Stavik, Benedicte B; Lauritzen, Knut H KH; Sandset, Per Morten PM; Harrison, Sean P SP; Sullivan, Gareth J GJ; Chollet, Maria Eugenia ME

Publication Date: 2023

Variant appearance in text: PC: 1297G>A

PubMed Link: 36711019

Variant Present in the following documents:

• Main text

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: PC: 1297G>A

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects.

Clinical Case Reports

Baothman, Abdullah A AA; AlSobhi, Enaam E; Khayat, Hassan A HA; Alsulami, Raed E RE; Alkahtani, Abdulaziz S AS; Al-Thobyani, Abdelraheem A AA; Marzouk, Yousef I YI; Abdelaal, Mohammad A MA

Publication Date: 2017-03

Variant appearance in text: PC: 1297G>A

PubMed Link: 28265398

Variant Present in the following documents:

• Main text

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Different Mutations in a P-type ATPase Transporter in Leishmania Parasites are Associated with Cross-resistance to Two Leading Drugs by Distinct Mechanisms.

Plos Neglected Tropical Diseases

Fernandez-Prada, Christopher C; Vincent, Isabel M IM; Brotherton, Marie-Christine MC; Roberts, Mathew M; Roy, Gaétan G; Rivas, Luis L; Leprohon, Philippe P; Smith, Terry K TK; Ouellette, Marc M

Publication Date: 2016-12

Variant appearance in text: PC: G433S

PubMed Link: 27911896

Variant Present in the following documents:

• Main text
• pntd.0005171.pdf

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Evolution and transmission of drug-resistant tuberculosis in a Russian population.

Nature Genetics

Casali, Nicola N; Nikolayevskyy, Vladyslav V; Balabanova, Yanina Y; Harris, Simon R SR; Ignatyeva, Olga O; Kontsevaya, Irina I; Corander, Jukka J; Bryant, Josephine J; Parkhill, Julian J; Nejentsev, Sergey S; Horstmann, Rolf D RD; Brown, Timothy T; Drobniewski, Francis F

Publication Date: 2014-03

Variant appearance in text: PC: G433S

PubMed Link: 24464101

Variant Present in the following documents:

• NIHMS56217-supplement-1.pdf

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