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11 .
Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis
저자
by
Nikolaus, Marc
;
Rausch, Philipp
;
Rostásy, Kevin
;
Bertolini, Annikki
;
Wickström, Ronny
, et al.
소스
Neurology - Neuroimmunology Neuroinflammation
. 10:e200102
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17 . Academic Journal
Kongenitale Schallempfindungsschwerhörigkeit bei einem 1-Jahr alten Zwillingskind mit Zellweger Spektrum Erkrankung: Fallvorstellung. (German)
저자
by
Krech, Lisa
;
Rosewich, Hendrik
;
Welkoborsky, Hans-Jürgen
.
소스
Laryngo-Rhino-Otologie; 2022 Supplement 2, Vol. 101, pS104-S105, 2p
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15 . Academic Journal
Systematic multigene panel studies in hereditary hearing loss diagnose complex inheritance patterns involving multiple genes.
저자
by
Dyett, Virginia
;
Braunwarth, Christoph
;
Rosewich, Hendrik
;
Kuranov, Alexandr
;
Kaulfuß, Silke
, et al.
소스
Laryngo-Rhino-Otologie; 2022 Supplement 2, Vol. 101, pS243-S244, 2p
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17 . Academic Journal
Congenital sensorineural hearing loss in a 1-year-old twin with Zellweger syndrome: a case report.
저자
by
Krech, Lisa
;
Rosewich, Hendrik
;
Welkoborsky, Hans-Jürgen
.
소스
Laryngo-Rhino-Otologie; 2022 Supplement 2, Vol. 101, pS243-S244, 2p
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15 . Academic Journal
Peroxisomal protein PEX13 functions in selective autophagy.
저자
by
Lee, Ming Y
;
Sumpter, Rhea
;
Zou, Zhongju
;
Sirasanagandla, Shyam
;
Wei, Yongjie
, et al.
소스
EMBO Reports; Jan2017, Vol. 18 Issue 1, p48-60, 13p
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17 . Book
Genetics of Paroxysmal Dyskinesia.
저자
by
Brockmann, Knut
;
Rosewich, Hendrik
.
소스
Movement Disorder Genetics; 2015, p191-211, 21p
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14 . Academic Journal
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity
저자
by
Lazarov, Elinor
;
Hillebrand, Merle
;
Schroeder, Simone
;
Ternka, Katharina
;
Hofhuis, Julia
, et al.
소스
NEUROBIOLOGY OF DISEASE
; SEP 2020, 143 p105012 9p.
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17 .
LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders
저자
by
Klemp, Henry Gerd
;
Kettwig, Matthias
;
Streit, Frank
;
Gärtner, Jutta
;
Rosewich, Hendrik
, et al.
소스
Metabolites
Metabolites, Vol 11, Iss 347, p 347 (2021)
Volume 11
Issue 6
Open Access (OpenAIRE)
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17 . Academic Journal
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
저자
by
Jaffer, Fatima
;
Avbersek, Andreja
;
Vavassori, Rosaria
;
Fons, Carmen
;
Campistol, Jaume
, et al.
소스
Brain
. Oct 01, 2015 138(10):2859-2874
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17 . Academic Journal
Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.
저자
by
Lüsebrink, Natalia
;
Porto, Luciana
;
Waterham, Hans R.
;
Ferdinandusse, Sacha
;
Rosewich, Hendrik
, et al.
소스
European Journal of Paediatric Neurology; Mar2016, Vol. 20 Issue 2, p331-335, 5p
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