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Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.
Jurkute, Neringa; Arno, Gavin; Webster, Andrew R; Yu-Wai-Man, Patrick.
Afiliação
  • Jurkute N; Genetics Department, Moorfields Eye Hospital NHS Foundation Trust (NJ, GA, ARW, PY-W-M), London, United Kingdom; Institute of Ophthalmology (NJ, GA, ARW, PY-W-M), University College London, London, United Kingdom; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children (GA), London, United Kingdom; Cambridge Eye Unit, Addenbrooke's Hospital (PY-W-M), Cambridge University Hospitals, Cambridge, United Kingdom; and John van Geest Centre for Brain Repair and MRC Mitochondrial
J Neuroophthalmol ; 43(4): e142-e145, 2023 Dec 01.
Article em En | MEDLINE | ID: mdl-35439212

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Atrofia Óptica Autossômica Dominante Limite: Humans Idioma: En Revista: J Neuroophthalmol Assunto da revista: NEUROLOGIA / OFTALMOLOGIA Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Atrofia Óptica Autossômica Dominante Limite: Humans Idioma: En Revista: J Neuroophthalmol Assunto da revista: NEUROLOGIA / OFTALMOLOGIA Ano de publicação: 2023 Tipo de documento: Article