Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

Neringa Jurkute, Anna Majander, Richard Bowman, Marcela Votruba, Stephen Abbs, James Acheson, Guy Lenaers, Patrizia Amati-Bonneau, Mariya Moosajee, Gavin Arno, Patrick Yu-Wai-Man

Tutkimustuotos: ArtikkelijulkaisuPääkirjoitusTieteellinen

Alkuperäiskielienglanti
LehtiEuropean Journal of Human Genetics
Vuosikerta27
Numero3
Sivut494-502
Sivumäärä9
ISSN1018-4813
DOI - pysyväislinkit
TilaJulkaistu - maaliskuuta 2019
OKM-julkaisutyyppiB1 Kirjoitus tieteellisessä aikakauslehdessä

Tieteenalat

  • 3111 Biolääketieteet
  • 1184 Genetiikka, kehitysbiologia, fysiologia
  • 1182 Biokemia, solu- ja molekyylibiologia

Lainaa tätä

Jurkute, Neringa ; Majander, Anna ; Bowman, Richard ; Votruba, Marcela ; Abbs, Stephen ; Acheson, James ; Lenaers, Guy ; Amati-Bonneau, Patrizia ; Moosajee, Mariya ; Arno, Gavin ; Yu-Wai-Man, Patrick. / Clinical utility gene card for : inherited optic neuropathies including next-generation sequencing-based approaches. Julkaisussa: European Journal of Human Genetics. 2019 ; Vuosikerta 27, Nro 3. Sivut 494-502.
@article{9726e4b346ab4ed1b860e603fa8e2d82,
title = "Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches",
keywords = "MUTATIONS, ATROPHY, ACCURATE, LAYER, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology, 1182 Biochemistry, cell and molecular biology",
author = "Neringa Jurkute and Anna Majander and Richard Bowman and Marcela Votruba and Stephen Abbs and James Acheson and Guy Lenaers and Patrizia Amati-Bonneau and Mariya Moosajee and Gavin Arno and Patrick Yu-Wai-Man",
year = "2019",
month = "3",
doi = "10.1038/s41431-018-0235-y",
language = "English",
volume = "27",
pages = "494--502",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "3",

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Jurkute, N, Majander, A, Bowman, R, Votruba, M, Abbs, S, Acheson, J, Lenaers, G, Amati-Bonneau, P, Moosajee, M, Arno, G & Yu-Wai-Man, P 2019, 'Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches' European Journal of Human Genetics, Vuosikerta 27, Nro 3, Sivut 494-502. https://doi.org/10.1038/s41431-018-0235-y

Clinical utility gene card for : inherited optic neuropathies including next-generation sequencing-based approaches. / Jurkute, Neringa; Majander, Anna; Bowman, Richard; Votruba, Marcela; Abbs, Stephen; Acheson, James; Lenaers, Guy; Amati-Bonneau, Patrizia; Moosajee, Mariya; Arno, Gavin; Yu-Wai-Man, Patrick.

julkaisussa: European Journal of Human Genetics, Vuosikerta 27, Nro 3, 03.2019, s. 494-502.

Tutkimustuotos: ArtikkelijulkaisuPääkirjoitusTieteellinen

TY - JOUR

T1 - Clinical utility gene card for

T2 - inherited optic neuropathies including next-generation sequencing-based approaches

AU - Jurkute, Neringa

AU - Majander, Anna

AU - Bowman, Richard

AU - Votruba, Marcela

AU - Abbs, Stephen

AU - Acheson, James

AU - Lenaers, Guy

AU - Amati-Bonneau, Patrizia

AU - Moosajee, Mariya

AU - Arno, Gavin

AU - Yu-Wai-Man, Patrick

PY - 2019/3

Y1 - 2019/3

KW - MUTATIONS

KW - ATROPHY

KW - ACCURATE

KW - LAYER

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

KW - 1182 Biochemistry, cell and molecular biology

U2 - 10.1038/s41431-018-0235-y

DO - 10.1038/s41431-018-0235-y

M3 - Editorial

VL - 27

SP - 494

EP - 502

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 3

ER -