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Paired comparison of the analytical performance between the Oncomine™ Comprehensive Assay v3 and whole-exome sequencing of ovarian cancer tissue
Paired comparison of the analytical performance between the Oncomine™ Comprehensive Assay v3 and whole-exome sequencing of ovarian cancer tissue
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Paired comparison of the analytical performance between the Oncomine™ Comprehensive Assay v3 and whole-exome sequencing of ovarian cancer tissue

Lopacinska-Jørgensen, Joanna ; Vestergaard, Lau K. ; Schejbel, Lone ; Høgdall, Claus K. ; Poulsen, Tim Svenstrup ; Høgdall, Estrid V.

Molecular biology reports, 2024-12, Vol.51 (1), p.820, Article 820 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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2
In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population
In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population
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In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population

Khosravi, Teymoor ; Naghipoor, Karim ; Vaghefi, Fatemeh ; Falahati, Ali Mohammad ; Oladnabi, Morteza

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.8-20 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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3
Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia
Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia
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Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia

Wang, Miao ; Hong, Ling ; Cai, Luyi ; Zhang, Ziyi ; Jiang, Ningdong ; Chen, Yijing ; Ying, Qian ; Kong, Lingpeng ; Wei, Zhiyun ; Xu, Yao ; Jin, Liping

Molecular biology reports, 2024-12, Vol.51 (1), p.153-153, Article 153 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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4
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease
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Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease

Schwarz, Martin ; Gazdarica, Matej ; Froňková, Eva ; Svatoň, Michael ; Bronský, Jiří ; Havlovicová, Markéta ; Křepelová, Anna ; Macek jr, Milan

Molecular biology reports, 2024-12, Vol.51 (1), p.399-399, Article 399 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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5
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa
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Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa

Zhang, Ying ; Sun, Mei ; Li, Na ; Zhao, Yiran ; Zhang, Fang ; Shu, Jianbo ; Liu, Yang ; Cai, Chunquan

Molecular biology reports, 2024-12, Vol.51 (1), p.498-498, Article 498 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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6
PRKN-linked familial Parkinson’s disease: cellular and molecular mechanisms of disease-linked variants
PRKN-linked familial Parkinson’s disease: cellular and molecular mechanisms of disease-linked variants
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PRKN-linked familial Parkinson’s disease: cellular and molecular mechanisms of disease-linked variants

Clausen, Lene ; Okarmus, Justyna ; Voutsinos, Vasileios ; Meyer, Morten ; Lindorff-Larsen, Kresten ; Hartmann-Petersen, Rasmus

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.223-223, Article 223 [Periódico revisado por pares]

Cham: Springer International Publishing

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7
Optimization of quinolinium-carbazole theranostics for the improved photooxidation of β-amyloid aggregates with the variation of conjugation site
Optimization of quinolinium-carbazole theranostics for the improved photooxidation of β-amyloid aggregates with the variation of conjugation site
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Optimization of quinolinium-carbazole theranostics for the improved photooxidation of β-amyloid aggregates with the variation of conjugation site

Xie, Zhiyu ; Hu, Chenwei ; Li, Yanping ; Zhang, Lei ; Yan, Jinwu

Journal of photochemistry and photobiology. A, Chemistry., 2024-11, Vol.456, p.115823, Article 115823 [Periódico revisado por pares]

Elsevier B.V

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8
A rare ACAN non-canonical splicing-site intron variant results in familial short stature
A rare ACAN non-canonical splicing-site intron variant results in familial short stature
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A rare ACAN non-canonical splicing-site intron variant results in familial short stature

Xu, Xiaowei ; Zhang, Xinjie ; Zhang, Mingying ; Wang, Jingjiao ; Lv, Ling ; Meng, Yingtao ; Shu, Jianbo ; Cai, Chunquan

Gene, 2024-10, Vol.925, p.148602, Article 148602 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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9
Geomorphological Heritage and Geotourism in a Granite Terrain of the Semi-Arid Northeast of Brazil: The Case of the Uruburetama Massif
Geomorphological Heritage and Geotourism in a Granite Terrain of the Semi-Arid Northeast of Brazil: The Case of the Uruburetama Massif
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Geomorphological Heritage and Geotourism in a Granite Terrain of the Semi-Arid Northeast of Brazil: The Case of the Uruburetama Massif

de Carvalho, Islane Pinto ; de Holanda Bastos, Frederico ; Cordeiro, Abner Monteiro Nunes

Geoheritage, 2024-09, Vol.16 (3), Article 68 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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10
Definition and implementation of the Cloud Infrastructure for the integration of the Human Digital Twin in the Social Internet of Things
Definition and implementation of the Cloud Infrastructure for the integration of the Human Digital Twin in the Social Internet of Things
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Definition and implementation of the Cloud Infrastructure for the integration of the Human Digital Twin in the Social Internet of Things

Girau, Roberto ; Anedda, Matteo ; Presta, Roberta ; Corpino, Silvia ; Ruiu, Pietro ; Fadda, Mauro ; Lam, Chan-Tong ; Giusto, Daniele

Computer networks (Amsterdam, Netherlands : 1999), 2024-09, Vol.251, p.110632, Article 110632 [Periódico revisado por pares]

Elsevier B.V

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