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1 . Academic Journal
A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism
저자
by
Valzania, Franco
;
Di Fonzo, Alessio
;
Versari, Annibale
;
Bauer, Peter
;
Paul, Jefri J.
, et al.
소스
Journal of Movement Disorders
. 17(2):236-238
View Record (KoreaMed)
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7 . Academic Journal
Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele
저자
by
Jecel, Julia
;
Harzer, Klaus
;
Paschke, Eduard
;
Beck-Wödl, Stefanie
;
Bauer, Peter
, et al.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2015 3
Open Access (SciELO)
Scopus
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7 . Academic Journal
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
저자
by
Iruzubieta, Pablo
;
Alves, César Augusto Pinheiro Ferreira
;
Al Shamsi, Aisha M.
;
ElGhazali, Gehad
;
Zaki, Maha S.
, et al.
소스
In
eBioMedicine
September 2024 107
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7 . Academic Journal
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
저자
by
de Masfrand, Servane
;
Cogné, Benjamin
;
Nizon, Mathilde
;
Deb, Wallid
;
Goldenberg, Alice
, et al.
소스
In
European Journal of Medical Genetics
June 2024 69
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7 . Academic Journal
Mono camera-based GPS spoofing detection for aerial vehicles
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by
Petro, Peter
;
Bauer, Peter
.
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IFAC PapersOnLine
2024 58(4):126-131
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4 . Academic Journal
Optical flow-based vertical angular rate fault detection on UAVs
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by
Jevuczo, Gabor
;
Bauer, Peter
.
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IFAC PapersOnLine
2024 58(4):109-114
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4 . Academic Journal
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
저자
by
Terhal, Paulien
;
Venhuizen, Anton J.
;
Lessel, Davor
;
Tan, Wen-Hann
;
Alswaid, Abdulrahman
, et al.
소스
In
The American Journal of Human Genetics
7 September 2023 110(9):1470-1481
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7 . Report
What if? Numerical weather prediction at the crossroads
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Bauer, Peter
.
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Open Access (Arxiv)
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3 . Conference
A Visual Quality Assessment Method for Raster Images in Scanned Document
저자
by
Yang, Justin
;
Bauer, Peter
;
Harris, Todd
;
Lee, Changhyung
;
Seo, Hyeon Seok
, et al.
소스
2024 IEEE Southwest Symposium on Image Analysis and Interpretation (SSIAI) Image Analysis and Interpretation (SSIAI), 2024 IEEE Southwest Symposium on. :117-120 Mar, 2024
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7 . Academic Journal
Genetic study of early-onset Parkinson's disease in the Malaysian population
저자
by
Tay, Yi Wen
;
Tan, Ai Huey
;
Lim, Jia Lun
;
Lohmann, Katja
;
Ibrahim, Khairul Azmi
, et al.
소스
In
Parkinsonism and Related Disorders
June 2023 111
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