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1 . Academic Journal
Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience
저자
by
Krueger, Darcy A.
;
Capal, Jamie K.
;
Curatolo, Paolo
;
Devinsky, Orrin
;
Ess, Kevin
, et al.
소스
In
European Journal of Paediatric Neurology
November 2018 22(6):1066-1073
Full Text (Clinical Key)
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7 . Academic Journal
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
저자
by
Langley, Elizabeth
;
Farach, Laura S.
;
Koenig, Mary K.
;
Northrup, Hope
;
Rodriguez‐Buritica, David F.
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2022, Vol. 188 Issue 6, p1688-1692, 5p
Web of Science
Scopus
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7 . Academic Journal
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
저자
by
Stenton, Sarah L.
;
Tesarova, Marketa
;
Sheremet, Natalia L.
;
Catarino, Claudia B.
;
Carelli, Valerio
, et al.
소스
Brain: A Journal of Neurology
. May2022, Vol. 145 Issue 5, p1624-1631. 8p.
Full Text (OUP)
Web of Science
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7 . Academic Journal
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
저자
by
Rosenfeld, Jill A.
;
Xiao, Rui
;
Bekheirnia, Mir Reza
;
Kanani, Farah
;
Parker, Michael J.
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2037-2045, 9p
Web of Science
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7 . Academic Journal
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
저자
by
Scott, Tiana M.
;
Guo, Hui
;
Eichler, Evan E.
;
Rosenfeld, Jill A.
;
Pang, Kaifang
, et al.
소스
Human Mutation; May2020, Vol. 41 Issue 5, p921-925, 5p
Web of Science
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7 . Academic Journal
Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial.
저자
by
Madsen, Karen L.
;
Buch, Astrid E.
;
Cohen, Bruce H.
;
Falk, Marni J.
;
Goldsberry, Angela
, et al.
소스
Neurology; 2/18/2020, Vol. 94 Issue 7, pe687-e698, 12p
Full Text (LWW)
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7 . Academic Journal
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum.
저자
by
Mendes, Marisa I.
;
Green, Lydia M. C.
;
Bertini, Enrico
;
Tonduti, Davide
;
Aiello, Chiara
, et al.
소스
Annals of Clinical & Translational Neurology
. Jan2020, Vol. 7 Issue 1, p83-93. 11p.
Open Access (Wiley)
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7 . Academic Journal
Idiopathic Central Nervous System Inflammatory Disease in the Setting of HLA-B27 Uveitis.
저자
by
Crowell, Eric L.
;
Pfeiffer, Margaret L.
;
Kamdar, Ankur A.
;
Koenig, Mary K.
;
Wittenberg, Susan E.
, et al.
소스
Ocular Immunology & Inflammation
. 2019, Vol. 27 Issue 6, p912-917. 6p.
Web of Science
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7 . Academic Journal
Immune Phenotype in Children with Mitochrondial Disease
저자
by
Tran, Dat Q.
;
Bunn, Jessica
;
Vaglienty-Pena, Rocio
;
Knight, Melissa S.
;
Contreras, Noemy Y.
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
February 2016 137(2) Supplement:AB394-AB394
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7 . Academic Journal
Solid organ transplantation in primary mitochondrial disease: Proceed with caution.
저자
by
Parikh, Sumit
;
Karaa, Amel
;
Goldstein, Amy
;
Ng, Yi S.
;
Gorman, Grainne
, et al.
소스
Molecular Genetics & Metabolism
. Jul2016, Vol. 118 Issue 3, p178-184. 7p.
Full Text (ScienceDirect)
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