| BERLAND, Siren, Trine L TOFT-BERTELSEN, Ingvild AUKRUST, Jan BYŠKA, Marc VAUDEL, Laurence BINDOFF, Nanna MACAULAY a Gunnar HOUGE. A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. Molecular Case Studies. Cold Spring Harbor Laboratory Press, 2018, roč. 4, č. 1. |
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@article{1545140,
author = {Berland, Siren and ToftandBertelsen, Trine L and Aukrust, Ingvild and Byška, Jan and Vaudel, Marc and Bindoff, Laurence and MacAulay, Nanna and Houge, Gunnar},
article_number = {1},
journal = {Molecular Case Studies},
title = {A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance},
volume = {4},
year = {2018}
}
TY - JOUR
ID - 1545140
AU - Berland, Siren - Toft-Bertelsen, Trine L - Aukrust, Ingvild - Byška, Jan - Vaudel, Marc - Bindoff, Laurence - MacAulay, Nanna - Houge, Gunnar
PY - 2018
TI - A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance
JF - Molecular Case Studies
VL - 4
IS - 1
PB - Cold Spring Harbor Laboratory Press
N2 - anglicky
ER -
BERLAND, Siren, Trine L TOFT-BERTELSEN, Ingvild AUKRUST, Jan BYŠKA, Marc VAUDEL, Laurence BINDOFF, Nanna MACAULAY a Gunnar HOUGE. A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. \textit{Molecular Case Studies}. Cold Spring Harbor Laboratory Press, 2018, roč.~4, č.~1.
|
