Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene (Q41920819)
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scientific article published on 10 February 2017
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English | Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene |
scientific article published on 10 February 2017 |
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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene (English)
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Genevieve Bernard
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Kym M Boycott
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Kristin D Kernohan
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David A Dyment
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Mihaela Pupavac
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Zvi Cramer
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Arran McBride
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Isabella Straub
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Martine Tetreault
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Taila Hartley
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Lijia Huang
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Erick Sell
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Jacek Majewski
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David S Rosenblatt
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Eric Shoubridge
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Aziz Mhanni
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Tara Myers
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Virginia Proud
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Samanta Vergano
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Brooke Spangler
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Emily Farrow
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Jennifer Kussman
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Nicole Safina
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Care4Rare Consortium
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Carol Saunders
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Isabelle Thiffault
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10 February 2017
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38
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5
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511-516
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