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1 . Academic Journal
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events [version 2; peer review: 2 approved]
저자
by
Gabriel Cea
;
Daniel Andreu
;
Elaine Fletcher
;
Sithara Ramdas
;
Richa Sud
, et al.
소스
Wellcome Open Research, Vol 5 (2020)
Open Access (DOAJ)
Scopus
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7 .
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing
저자
by
Vinojini Vivekanandam
;
Rawan Jaibaji
;
Richa Sud
;
Rebecca Ellmers
;
Iwona Skorupinska
, et al.
소스
Neuromuscular Disorders
. 33:270-273
Full Text (Clinical Key)
Web of Science
Scopus
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7 .
Andersen–Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity
저자
by
Vinojini Vivekanandam
;
Roope Männikkö
;
Iwona Skorupinska
;
Louise Germain
;
Belinda Gray
, et al.
소스
Brain
. 145:2108-2120
Full Text (OUP)
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia
저자
by
Dimitri M. Kullmann
;
Mary G. Sweeney
;
Andrea Haworth
;
Richa Sud
;
S. McCall
, et al.
소스
Brain
. 145:607-620
Full Text (OUP)
Open Access (OpenAIRE)
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7 .
Dissing learning disabilities
저자
by
Richa Sud
.
소스
Open Access (OpenAIRE)
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3 .
Andersen-Tawil Syndrome Presenting with Complete Heart Block
저자
by
Vino Vivekanandam
;
Natalie James
;
Roope Männikkö
;
Richa Sud
;
Emma Matthews
, et al.
소스
Journal of neuromuscular diseases
. 8(1)
Open Access (OpenAIRE)
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7 .
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation
저자
by
Michael G. Thor
;
Emma Matthews
;
Roope Männikkö
;
Vinojini Vivekanandam
;
Michael G. Hanna
, et al.
소스
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)
Scientific Reports
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7 .
Annual renal ultrasound may prevent acute presentation with acetazolamide-associated urolithiasis
저자
by
Vinojini Vivekanandam
;
K. Suetterlin
;
N. James
;
Emma Matthews
;
Richa Sud
, et al.
소스
Neurology: Clinical Practice
article-version (Version of Record) 3
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7 .
Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy
저자
by
Emma Matthews
;
Richa Sud
;
Louise Hartley
;
Michael G. Hanna
;
Pinki Munot
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. 90:243-245
Full Text (BMJ Journals)
Open Access (OpenAIRE)
Web of Science
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7 .
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events
저자
by
Richa Sud
;
Michael G. Hanna
;
Gabriel Cea
;
Emma Matthews
;
Elaine Fletcher
, et al.
소스
Wellcome Open Research
Open Access (OpenAIRE)
Scopus
요약보기
Export
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