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1
Social determinants of health and outcomes for children and adults with congenital heart disease: a systematic review
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Social determinants of health and outcomes for children and adults with congenital heart disease: a systematic review

Pediatric research, 2021-01, Vol.89 (2), p.275-294 [Peer Reviewed Journal]

International Pediatric Research Foundation, Inc 2020. ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/s41390-020-01196-6 ;PMID: 33069160

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2
Single-cell analysis of developing and azoospermia human testicles reveals central role of Sertoli cells
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Single-cell analysis of developing and azoospermia human testicles reveals central role of Sertoli cells

Nature communications, 2020-11, Vol.11 (1), p.5683-5683, Article 5683 [Peer Reviewed Journal]

The Author(s) 2020. corrected publication 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) 2020, corrected publication 2021 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-19414-4 ;PMID: 33173058

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3
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls
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Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Pediatric research, 2018-12, Vol.84 (6), p.837-841 [Peer Reviewed Journal]

Copyright Nature Publishing Group Dec 2018 ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/s41390-018-0206-6 ;PMID: 30397276

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4
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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5
Self-assembling human heart organoids for the modeling of cardiac development and congenital heart disease
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Self-assembling human heart organoids for the modeling of cardiac development and congenital heart disease

Nature communications, 2021-08, Vol.12 (1), p.5142-5142, Article 5142 [Peer Reviewed Journal]

2021. The Author(s). ;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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-021-25329-5 ;PMID: 34446706

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6
Physical activity modification in youth with congenital heart disease: a comprehensive narrative review
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Physical activity modification in youth with congenital heart disease: a comprehensive narrative review

Pediatric research, 2021-05, Vol.89 (7), p.1650-1658 [Peer Reviewed Journal]

The Author(s) 2020. 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) 2020 ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/s41390-020-01194-8 ;PMID: 33049756

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7
Application of Neonatologist Performed Echocardiography in the Assessment and Management of Neonatal Heart Failure unrelated to Congenital Heart Disease
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Application of Neonatologist Performed Echocardiography in the Assessment and Management of Neonatal Heart Failure unrelated to Congenital Heart Disease

Pediatric research, 2018-07, Vol.84 (Suppl 1), p.78-88 [Peer Reviewed Journal]

2018. 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. ;info:eu-repo/semantics/openAccess ;The Author(s) 2018 ;ISSN: 0031-3998 ;ISSN: 1530-0447 ;EISSN: 1530-0447 ;DOI: 10.1038/s41390-018-0075-z ;PMID: 30072802

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8
In situ immune response and mechanisms of cell damage in central nervous system of fatal cases microcephaly by Zika virus
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Article
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In situ immune response and mechanisms of cell damage in central nervous system of fatal cases microcephaly by Zika virus

Scientific reports, 2018-01, Vol.8 (1), p.1-1, Article 1 [Peer Reviewed Journal]

2017. 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) 2017 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-017-17765-5 ;PMID: 29311619

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9
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
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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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10
Effects of perioperative exercise on cardiorespiratory endurance in children with congenital heart disease in plateau areas after surgical repair
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Effects of perioperative exercise on cardiorespiratory endurance in children with congenital heart disease in plateau areas after surgical repair

Scientific reports, 2023-10, Vol.13 (1), p.18088-18088, Article 18088 [Peer Reviewed Journal]

The Author(s) 2023. 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. ;Springer Nature Limited 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-45310-0 ;PMID: 37872227

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11
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Genetics in medicine, 2020-04, Vol.22 (4), p.736-744 [Peer Reviewed Journal]

2020 The Author(s) ;American College of Medical Genetics and Genomics 2019. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0708-6 ;PMID: 31780822

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12
Associations between neurofilament light-chain protein, brain structure, and chronic kidney disease
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Article
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Associations between neurofilament light-chain protein, brain structure, and chronic kidney disease

Pediatric research, 2022-06, Vol.91 (7), p.1735-1740 [Peer Reviewed Journal]

2021. The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc. ;The Author(s), under exclusive licence to the International Pediatric Research Foundation, Inc 2021. ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/s41390-021-01649-6 ;PMID: 34274959

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13
Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP2
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Article
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Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP2

Nature communications, 2023-10, Vol.14 (1), p.6157-6157, Article 6157 [Peer Reviewed Journal]

The Author(s) 2023. 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. ;Springer Nature Limited 2023 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-023-41924-0 ;PMID: 37788993

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14
A review of acquired blepharoptosis: prevalence, diagnosis, and current treatment options
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Article
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A review of acquired blepharoptosis: prevalence, diagnosis, and current treatment options

Eye (London), 2021-09, Vol.35 (9), p.2468-2481 [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: 0950-222X ;EISSN: 1476-5454 ;DOI: 10.1038/s41433-021-01547-5 ;PMID: 33927356

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15
MVP predicts the pathogenicity of missense variants by deep learning
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MVP predicts the pathogenicity of missense variants by deep learning

Nature communications, 2021-01, Vol.12 (1), p.510-510, Article 510 [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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-20847-0 ;PMID: 33479230

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16
A human multi-lineage hepatic organoid model for liver fibrosis
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Article
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A human multi-lineage hepatic organoid model for liver fibrosis

Nature communications, 2021-10, Vol.12 (1), p.6138-6138, Article 6138 [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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-021-26410-9 ;PMID: 34686668

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17
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
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Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness

Genetics in medicine, 2019-01, Vol.21 (1), p.173-180 [Peer Reviewed Journal]

2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0006-8 ;PMID: 29765138

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18
Conformational ensemble of the human TRPV3 ion channel
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Article
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Conformational ensemble of the human TRPV3 ion channel

Nature communications, 2018-11, Vol.9 (1), p.4773-12, Article 4773 [Peer Reviewed Journal]

2018. 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) 2018 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-018-07117-w ;PMID: 30429472

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19
Neuroplacentology in congenital heart disease: placental connections to neurodevelopmental outcomes
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Article
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Neuroplacentology in congenital heart disease: placental connections to neurodevelopmental outcomes

Pediatric research, 2022-03, Vol.91 (4), p.787-794 [Peer Reviewed Journal]

2021. The Author(s). ;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: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/s41390-021-01521-7 ;PMID: 33864014

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20
Goldilocks principle and recessive disease
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Goldilocks principle and recessive disease

European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.143-145 [Peer Reviewed Journal]

The Author(s), under exclusive licence to European Society of Human Genetics 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-023-01458-x ;PMID: 37737285

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