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

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Publications Detailed Information on Publication Record

Detailed Information on Publication Record

J 2018

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

BERLAND, Siren, Trine L TOFT-BERTELSEN, Ingvild AUKRUST, Jan BYŠKA, Marc VAUDEL et. al.

Basic information

Original name

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

Authors

BERLAND, Siren, Trine L TOFT-BERTELSEN, Ingvild AUKRUST, Jan BYŠKA, Marc VAUDEL, Laurence BINDOFF, Nanna MACAULAY and Gunnar HOUGE

Edition

Molecular Case Studies, Cold Spring Harbor Laboratory Press, 2018

Other information

Type of outcome

Článek v odborném periodiku

Confidentiality degree

není předmětem státního či obchodního tajemství

Změněno: 13/11/2019 07:06, RNDr. Jan Byška, Ph.D.

Abstract

V originále

anglicky

BERLAND, Siren, Trine L TOFT-BERTELSEN, Ingvild AUKRUST, Jan BYŠKA, Marc VAUDEL, Laurence BINDOFF, Nanna MACAULAY and 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, vol. 4, No 1.

@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 and 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, vol.~4, No~1.