Publications:

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

Scientific Reports

Akinrinade, Oyediran O; Heliö, Tiina T; Lekanne Deprez, Ronald H RH; Jongbloed, Jan D H JDH; Boven, Ludolf G LG; van den Berg, Maarten P MP; Pinto, Yigal M YM; Alastalo, Tero-Pekka TP; Myllykangas, Samuel S; Spaendonck-Zwarts, Karin van KV; van Tintelen, J Peter JP; van der Zwaag, Paul A PA; Koskenvuo, Juha J

Publication Date: 2019-03-11

Variant appearance in text: TTN: 6115C>T; Leu2039Phe

PubMed Link: 30858397

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39911.pdf

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Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine

Nair, Pratibha P; Sabbagh, Sandra S; Mansour, Hicham H; Fawaz, Ali A; Hmaimess, Ghassan G; Noun, Peter P; Dagher, Rawane R; Megarbane, Hala H; Hana, Sayeeda S; Alame, Saada S; Lamaa, Maher M; Hasbini, Dana D; Farah, Roula R; Rajab, Mariam M; Stora, Samantha S; El-Tourjuman, Oulfat O; Abou Jaoude, Pauline P; Chalouhi, Gihad G; Sayad, Rony R; Gillart, Anne-Celine AC; Al-Ali, Mahmoud M; Delague, Valerie V; El-Hayek, Stephany S; Mégarbané, André A

Publication Date: 2018-11

Variant appearance in text: TTN: 6115C>T

PubMed Link: 30293248

Variant Present in the following documents:

• Main text
• MGG3-6-1041.pdf

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