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1 . Academic Journal
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
저자
by
Viorica Chelban
;
Henriette Aksnes
;
Reza Maroofian
;
Lauren C. LaMonica
;
Luis Seabra
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review
저자
by
Stefania Della Vecchia
;
Alessandra Tessa
;
Rosa Pasquariello
;
Luis Seabra
;
Yanick J. Crow
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2864 (2024)
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7 . Academic Journal
Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome
저자
by
Tanvi Acharya
;
Helen V. Firth
;
Shilpa Dugar
;
Tassos Grammatikopoulos
;
Luis Seabra
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Open Access (Wiley)
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7 . Academic Journal
Crops on the Rocks: Production, Processing, and Storage at the Early Medieval Site of Senhora Do Barrocal (Municipality of Sátão, Central Portugal)
저자
by
Luís Seabra
;
Catarina Tente
;
Filipe Costa Vaz
;
Cláudia Oliveira
;
Lara González Carretero
, et al.
소스
Plants, Vol 11, Iss 4, p 471 (2022)
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7 . Academic Journal
Diversidad de cultivos y estructuras de almacenaje en el poblado de Crastoeiro (Noroeste de la Península Ibérica): nuevos enfoques
저자
by
Luís Seabra
;
João Tereso
;
Ana M. S. Bettencourt
;
António Dinis
.
소스
Trabajos de Prehistoria, Vol 75, Iss 2, Pp 361-378 (2018)
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6 . Academic Journal
Familial Blau syndrome:First molecularly confirmed report from India
저자
by
Mahesh Janarthanan
;
Chanchal Poddar
;
S Sudharshan
;
Luis Seabra
;
Yanick J Crow
.
소스
Indian Journal of Ophthalmology, Vol 67, Iss 1, Pp 165-167 (2019)
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7 . Academic Journal
Type I interferon-mediated autoinflammation due to DNase II deficiency
저자
by
Mathieu P. Rodero
;
Alessandra Tesser
;
Eva Bartok
;
Gillian I. Rice
;
Erika Della Mina
, et al.
소스
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
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7 . Academic Journal
20pBT-8 Order by Disorder in Square-Lattice Frustrated Ferromagnets / 20pBT-8 正方格子フラストレート強磁性体におけるorder by disorder
저자
by
Luis Seabra
;
Nic Shannon
;
Philippe Sindzingre
;
T. Momoi
;
桃井 勉
.
소스
Meeting Abstracts of the Physical Society of Japan. 2016, :2892
Open Access (JSTAGE)
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7 . Academic Journal
25pAG-11 Phase diagram of the classical Heiaenberg antiferromagnet on a triangular lattice in an applied magnetic field / 25pAG-11 磁場中三角格子古典ハイゼンベルグ模型の相転移(25pAG スピングラス・ランダムスピン系・古典フラストレート系・古典スピン系一般,領域11(統計力学,物性基礎論,応用数学,力学,流体物理))
저자
by
Luis Seabra
;
Nic Shannon
;
Philippe Sindzingre
;
T. Momoi
;
桃井 勉
.
소스
Meeting Abstracts of the Physical Society of Japan. 2012, :320
Open Access (JSTAGE)
Find it @ DONGA
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7 .
JAK inhibition in Aicardi-Goutières syndrome: a monocentric multidisciplinary real-world approach study
저자
by
Marie-Louise Frémond
;
Marie Hully
;
Benjamin Fournier
;
Rémi Barrois
;
Romain Lévy
, et al.
소스
Frémond, M-L, Hully, M, Fournier, B, Barrois, R, Lévy, R, Aubart, M, Castelle, M, Chabalier, D, Gins, C, Sarda, E, Al Adba, B, Couderc, S, D'Almeida, C, Berat, C-M, Durrleman, C, Espil, C, Lambert, L, Meni, C, Perivier, M, Pillet, P, Polivka, L, Schiff, M, Todosi, C, Uettwiller, F, Lepelley, A, Rice, G I, Seabra, L, Sanquer, S, Hulin, A, Pressiat, C, Goldwirt, L, Bondet, V, Duffy, D, Moshous, D, Bader-Meunier, B, Bodemer, C, Robin-Renaldo, F, Boddaert, N, Blanche, S, Desguerre, I, Crow, Y J & Neven, B 2023, ' JAK inhibition in Aicardi-Goutières syndrome: a monocentric multidisciplinary real-world approach study ', Journal of Clinical Immunology . https://doi.org/10.1007/s10875-023-01500-z
Journal of Clinical Immunology
Journal of Clinical Immunology, 2023, ⟨10.1007/s10875-023-01500-z⟩
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