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Expansion of the phenotype of biallelic variants in TRIT1.
Forde, Karina M; Molloy, Ben; Conroy, Judith; Green, Andrew J; King, Mary D; Buckley, Patrick G; Ryan, Stephanie; Gorman, Kathleen M.
Afiliación
  • Forde KM; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Temple Street, D01 YC67, Ireland.
  • Molloy B; Genomics Medicine Ireland, Cherrywood Business Park, Ireland.
  • Conroy J; Genomics Medicine Ireland, Cherrywood Business Park, Ireland.
  • Green AJ; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Crumlin, Dublin, D12 N512, Ireland; University College Dublin School of Medicine and Medical Science, University College Dublin, Ireland.
  • King MD; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Temple Street, D01 YC67, Ireland; Department of Radiology, Children's Health Ireland at Temple Street, Temple Street, D01 YC67, Ireland.
  • Buckley PG; Genomics Medicine Ireland, Cherrywood Business Park, Ireland.
  • Ryan S; Department of Radiology, Children's Health Ireland at Temple Street, Temple Street, D01 YC67, Ireland.
  • Gorman KM; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Temple Street, D01 YC67, Ireland; University College Dublin School of Medicine and Medical Science, University College Dublin, Ireland. Electronic address: kathleen.gorman@cuh.ie.
Eur J Med Genet ; 63(6): 103882, 2020 Jun.
Article en En | MEDLINE | ID: mdl-32088416
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transferasas Alquil y Aril / Enfermedades Mitocondriales Límite: Female / Humans / Newborn Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Irlanda
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transferasas Alquil y Aril / Enfermedades Mitocondriales Límite: Female / Humans / Newborn Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Irlanda