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1
Gene therapy comes of age
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Article
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Gene therapy comes of age

Science (American Association for the Advancement of Science), 2018-01, Vol.359 (6372) [Peer Reviewed Journal]

Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. ;Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.aan4672 ;PMID: 29326244

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2
Syphilis
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Article
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Syphilis

The Lancet (British edition), 2017-04, Vol.389 (10078), p.1550-1557 [Peer Reviewed Journal]

Elsevier Ltd ;2017 Elsevier Ltd ;Copyright © 2017 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Apr 15, 2017 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(16)32411-4 ;PMID: 27993382

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3
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Scientific reports, 2021-01, Vol.11 (1), p.1526-1526, Article 1526 [Peer Reviewed Journal]

The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-81093-y ;PMID: 33452396

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4
Mitochondrial disease in adults: recent advances and future promise
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Mitochondrial disease in adults: recent advances and future promise

Lancet neurology, 2021-07, Vol.20 (7), p.573-584 [Peer Reviewed Journal]

2021 Elsevier Ltd ;2021. Elsevier Ltd ;ISSN: 1474-4422 ;EISSN: 1474-4465 ;DOI: 10.1016/S1474-4422(21)00098-3

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5
Adrenal insufficiency
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Article
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Adrenal insufficiency

The Lancet (British edition), 2021-02, Vol.397 (10274), p.613-629 [Peer Reviewed Journal]

2021 Elsevier Ltd ;Copyright © 2021 Elsevier Ltd. All rights reserved. ;2021. Elsevier Ltd ;ISSN: 0140-6736 ;ISSN: 1474-547X ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(21)00136-7 ;PMID: 33484633

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6
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
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Article
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Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-141, Article 141 [Peer Reviewed Journal]

COPYRIGHT 2020 BioMed Central Ltd. ;2020. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Attribution ;The Author(s) 2020 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01430-8 ;PMID: 32503598

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7
Down syndrome
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Article
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Down syndrome

Nature reviews. Disease primers, 2020-02, Vol.6 (1), p.9-9, Article 9 [Peer Reviewed Journal]

2020© Springer Nature Limited 2020 ;ISSN: 2056-676X ;EISSN: 2056-676X ;DOI: 10.1038/s41572-019-0143-7 ;PMID: 32029743

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8
Stillbirths: rates, risk factors, and acceleration towards 2030
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Article
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Stillbirths: rates, risk factors, and acceleration towards 2030

The Lancet (British edition), 2016-02, Vol.387 (10018), p.587-603 [Peer Reviewed Journal]

Elsevier Ltd ;2016 Elsevier Ltd ;Copyright © 2016 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Feb 6, 2016 ;2016. Elsevier Ltd ;ISSN: 0140-6736 ;ISSN: 1474-547X ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(15)00837-5 ;PMID: 26794078 ;CODEN: LANCAO

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9
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway
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Article
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The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway

Endocrine reviews, 2018-10, Vol.39 (5), p.676-700 [Peer Reviewed Journal]

Copyright © 2018 Endocrine Society 2018 ;Copyright © Oxford University Press 2015 ;COPYRIGHT 2018 Oxford University Press ;Copyright © 2018 Endocrine Society ;ISSN: 0163-769X ;EISSN: 1945-7189 ;DOI: 10.1210/er.2017-00232 ;PMID: 29924299

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10
Estimating the global burden of sexually transmitted infections
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Article
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Estimating the global burden of sexually transmitted infections

The Lancet infectious diseases, 2022-08, Vol.22 (8), p.1112-1113 [Peer Reviewed Journal]

2022. Elsevier Ltd ;ISSN: 1473-3099 ;EISSN: 1474-4457 ;DOI: 10.1016/S1473-3099(22)00415-7

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11
Complicated pneumonia in children
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Complicated pneumonia in children

The Lancet (British edition), 2020-09, Vol.396 (10253), p.786-798 [Peer Reviewed Journal]

2020 Elsevier Ltd ;2020. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(20)31550-6

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12
Restoring vision
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Restoring vision

Nature (London), 2018-05, Vol.557 (7705), p.359-367 [Peer Reviewed Journal]

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group May 17, 2018 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-018-0076-4 ;PMID: 29769667

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13
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
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Article
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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Scientific reports, 2019-02, Vol.9 (1), p.1219-1219, Article 1219 [Peer Reviewed Journal]

This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2019 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-018-38007-2 ;PMID: 30718709

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14
ISSVA Classification of Vascular Anomalies and Molecular Biology
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Article
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ISSVA Classification of Vascular Anomalies and Molecular Biology

International journal of molecular sciences, 2022-02, Vol.23 (4), p.2358 [Peer Reviewed Journal]

2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 by the authors. 2022 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms23042358 ;PMID: 35216474

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15
Vaccination against the human cytomegalovirus
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Article
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Vaccination against the human cytomegalovirus

Vaccine, 2019-11, Vol.37 (50), p.7437-7442 [Peer Reviewed Journal]

2018 ;Copyright © 2018. Published by Elsevier Ltd. ;Copyright Elsevier Limited Nov 28, 2019 ;2018 The Authors. Published by Elsevier Ltd. 2018 ;ISSN: 0264-410X ;EISSN: 1873-2518 ;DOI: 10.1016/j.vaccine.2018.02.089 ;PMID: 29622379

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16
The Role of the Aryl Hydrocarbon Receptor (AHR) in Immune and Inflammatory Diseases
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Article
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The Role of the Aryl Hydrocarbon Receptor (AHR) in Immune and Inflammatory Diseases

International journal of molecular sciences, 2018-12, Vol.19 (12), p.3851 [Peer Reviewed Journal]

2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2018 by the authors. 2018 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms19123851 ;PMID: 30513921

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17
Artificial intelligence in healthcare: past, present and future
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Article
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Artificial intelligence in healthcare: past, present and future

Stroke and vascular neurology, 2017-12, Vol.2 (4), p.230-243 [Peer Reviewed Journal]

Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;2017 Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. 2017 ;ISSN: 2059-8688 ;EISSN: 2059-8696 ;DOI: 10.1136/svn-2017-000101 ;PMID: 29507784

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18
Cataracts
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Article
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Cataracts

The Lancet (British edition), 2023-02, Vol.401 (10374), p.377-389 [Peer Reviewed Journal]

2023 Elsevier Ltd ;Copyright © 2023 Elsevier Ltd. All rights reserved. ;2023. Elsevier Ltd ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(22)01839-6 ;PMID: 36565712

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19
Application of prime editing to the correction of mutations and phenotypes in adult mice with liver and eye diseases
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Article
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Application of prime editing to the correction of mutations and phenotypes in adult mice with liver and eye diseases

Nature biomedical engineering, 2022-02, Vol.6 (2), p.181-194 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to Springer Nature Limited. ;The Author(s), under exclusive licence to Springer Nature Limited 2021. ;ISSN: 2157-846X ;EISSN: 2157-846X ;DOI: 10.1038/s41551-021-00788-9 ;PMID: 34446856

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20
Focal choroidal excavation: review of literature
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Article
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Focal choroidal excavation: review of literature

British journal of ophthalmology, 2021-08, Vol.105 (8), p.1043-1048 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0007-1161 ;EISSN: 1468-2079 ;DOI: 10.1136/bjophthalmol-2020-316992

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