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1
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
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Article
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Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.365-365, Article 365 [Peer Reviewed Journal]

COPYRIGHT 2023 BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-023-02967-0

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2
Correction: Smek1 deficiency exacerbates experimental autoimmune encephalomyelitis by activating proinflammatory microglia and suppressing the IDO1-AhR pathway
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Article
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Correction: Smek1 deficiency exacerbates experimental autoimmune encephalomyelitis by activating proinflammatory microglia and suppressing the IDO1-AhR pathway

Journal of neuroinflammation, 2023-07, Vol.20 (1), p.160-160, Article 160 [Peer Reviewed Journal]

COPYRIGHT 2023 BioMed Central Ltd. ;The Author(s) 2023 ;ISSN: 1742-2094 ;EISSN: 1742-2094 ;DOI: 10.1186/s12974-023-02834-6 ;PMID: 37407996

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3
DNA methylation changes and increased mRNA expression of coagulation proteins, factor V and thrombomodulin in Fuchs endothelial corneal dystrophy
Material Type:
Article
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DNA methylation changes and increased mRNA expression of coagulation proteins, factor V and thrombomodulin in Fuchs endothelial corneal dystrophy

Cellular and molecular life sciences : CMLS, 2023, Vol.80 (3) [Peer Reviewed Journal]

ISSN: 1420-9071 ;ISSN: 1420-682X ;EISSN: 1420-9071 ;DOI: 10.21203/rs.3.rs-1758860/v1

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4
Type 2 cytokine genes as allergic asthma risk factors after viral bronchiolitis in early childhood
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Article
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Type 2 cytokine genes as allergic asthma risk factors after viral bronchiolitis in early childhood

Navngivelse 4.0 Internasjonal ;ISSN: 1664-3224 ;EISSN: 1664-3224 ;DOI: 10.3389/fimmu.2022.1054119

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5
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
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Article
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-021-00859-0

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6
WNT16 Requires G[alpha] Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts
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Article
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WNT16 Requires G[alpha] Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts

Calcified tissue international, 2020-03, Vol.106 (3), p.294 [Peer Reviewed Journal]

COPYRIGHT 2020 Springer ;ISSN: 0171-967X ;EISSN: 1432-0827

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7
Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/[beta]-Catenin Signaling Pathway.(Research Article)
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Article
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Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/[beta]-Catenin Signaling Pathway.(Research Article)

BioMed research international, 2020-05 [Peer Reviewed Journal]

COPYRIGHT 2020 Hindawi Limited ;ISSN: 2314-6133 ;EISSN: 2314-6141 ;DOI: 10.1155/2020/7681926

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8
Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing
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Article
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Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing

cc by (c) Pardos Gea, Jose et al., 2023 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess ;ISSN: 1422-0067 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms242216372

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9
MicroRNA-149 is downregulated in Alzheimer’s disease and inhibits β-amyloid accumulation and ameliorates neuronal viability through targeting BACE1
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Article
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MicroRNA-149 is downregulated in Alzheimer’s disease and inhibits β-amyloid accumulation and ameliorates neuronal viability through targeting BACE1

Genetics and molecular biology, 2021-01, Vol.44 (1) [Peer Reviewed Journal]

ISSN: 1415-4757 ;EISSN: 1678-4685 ;DOI: 10.1590/1415-4757-GMB-2020-0064 ;PMID: 33428703

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10
The risk allele A of rs200395694 associated with SLE in Swedish patients affects on MEF2D gene regulation and alternative splicing
Material Type:
Conference Proceeding
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The risk allele A of rs200395694 associated with SLE in Swedish patients affects on MEF2D gene regulation and alternative splicing

Human Gene Therapy, 2018, Vol.29 (12), p.A44 [Peer Reviewed Journal]

ISSN: 1557-7422 ;ISSN: 1043-0342 ;EISSN: 1557-7422

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11
Clinical applications of microRNAs [version 3; peer review: 2 approved]
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Article
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Clinical applications of microRNAs [version 3; peer review: 2 approved]

F1000 research, 2013-10, Vol.2 [Peer Reviewed Journal]

Copyright: © 2013 Hydbring P and Badalian-Very G ;Copyright: © 2013 Hydbring P et al. 2013 ;ISSN: 2046-1402 ;EISSN: 2046-1402 ;DOI: 10.12688/f1000research.2-136.v3 ;PMID: 24627783

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12
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD.sup.® and dbSNP databases
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Article
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An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD.sup.® and dbSNP databases

Human genetics, 2021-09, Vol.140 (9), p.1379 [Peer Reviewed Journal]

COPYRIGHT 2021 Springer ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-021-02316-w

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13
Neurogenetic Disorders
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Article
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Neurogenetic Disorders

Indian journal of clinical biochemistry, 2022-05, Vol.29 (S1), p.S5 [Peer Reviewed Journal]

COPYRIGHT 2022 Springer ;ISSN: 0970-1915 ;EISSN: 0974-0422

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14
A consensus molecular classification of muscle-invasive bladder cancer
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Article
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A consensus molecular classification of muscle-invasive bladder cancer

European urology, 2020-04, Vol.77 (4), p.420-433 [Peer Reviewed Journal]

info:eu-repo/semantics/openAccess © 2019 The Authors. Published by Elsevier B.V. on behalf of European Association of Urology. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/) http://creativecommons.org/licenses/by-nc-nd/4.0/ ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0302-2838 ;EISSN: 1873-7560 ;DOI: 10.1016/j.eururo.2019.09.006

Digital Resources/Online E-Resources

15
The Cancer Genome Atlas Pan-Cancer analysis project
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Article
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The Cancer Genome Atlas Pan-Cancer analysis project

Nature genetics, 2013-10, Vol.45 (10), p.1113-1120 [Peer Reviewed Journal]

Copyright Nature Publishing Group Oct 2013 ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.2764 ;PMID: 24071849

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16
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
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Article
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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

Nature genetics, 2022-12, Vol.54 (12), p.1803-1815 [Peer Reviewed Journal]

2022. The Author(s). ;The Author(s) 2022 ;ISSN: 1061-4036 ;ISSN: 1546-1718 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-022-01233-6 ;PMID: 36474045

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17
Long-Read Sequencing Emerging in Medical Genetics
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Article
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Long-Read Sequencing Emerging in Medical Genetics

Frontiers in genetics, 2019-05, Vol.10, p.426-426 [Peer Reviewed Journal]

Copyright © 2019 Mantere, Kersten and Hoischen. 2019 Mantere, Kersten and Hoischen ;ISSN: 1664-8021 ;EISSN: 1664-8021 ;DOI: 10.3389/fgene.2019.00426 ;PMID: 31134132

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18
The personal and clinical utility of polygenic risk scores
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Article
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The personal and clinical utility of polygenic risk scores

Nature reviews. Genetics, 2018-09, Vol.19 (9), p.581-590 [Peer Reviewed Journal]

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2018 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/s41576-018-0018-x ;PMID: 29789686

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19
Prioritizing diversity in human genomics research
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Article
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Prioritizing diversity in human genomics research

Nature reviews. Genetics, 2018-03, Vol.19 (3), p.175-185 [Peer Reviewed Journal]

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2018 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg.2017.89 ;PMID: 29151588

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20
A reference panel of 64,976 haplotypes for genotype imputation
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Article
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A reference panel of 64,976 haplotypes for genotype imputation

Nature genetics, 2016-10, Vol.48 (10), p.1279-1283 [Peer Reviewed Journal]

Copyright Nature Publishing Group Oct 2016 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3643 ;PMID: 27548312

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