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1
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
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Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms

International journal of molecular sciences, 2021-01, Vol.22 (2), p.911 [Peer Reviewed Journal]

2021. This work is licensed under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms22020911 ;PMID: 33477564

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2
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases
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Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases

Biomolecules (Basel, Switzerland), 2018-10, Vol.8 (4), p.123 [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. ;Distributed under a Creative Commons Attribution 4.0 International License ;2018 by the authors. 2018 ;ISSN: 2218-273X ;EISSN: 2218-273X ;DOI: 10.3390/biom8040123 ;PMID: 30356013

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3
Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020
Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020
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Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020

International journal of neonatal screening, 2023-04, Vol.9 (2), p.23 [Peer Reviewed Journal]

COPYRIGHT 2023 MDPI AG ;2023 by the authors. 2023 ;ISSN: 2409-515X ;EISSN: 2409-515X ;DOI: 10.3390/ijns9020023 ;PMID: 37092517

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4
Bone fragility in patients affected by congenital diseases non skeletal in origin
Bone fragility in patients affected by congenital diseases non skeletal in origin
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Bone fragility in patients affected by congenital diseases non skeletal in origin

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.11-11, Article 11 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. 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. ;The Author(s) 2021 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01611-5 ;PMID: 33407701

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5
Congenital diseases with multi-organ expression as an indication for liver transplantation in children during the first years of life: Integrative approach to improve the outcomes
Congenital diseases with multi-organ expression as an indication for liver transplantation in children during the first years of life: Integrative approach to improve the outcomes
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Congenital diseases with multi-organ expression as an indication for liver transplantation in children during the first years of life: Integrative approach to improve the outcomes

Journal of liver transplantation, 2024-05, Vol.14, Article 100216 [Peer Reviewed Journal]

2024 The Author(s) ;ISSN: 2666-9676 ;EISSN: 2666-9676 ;DOI: 10.1016/j.liver.2024.100216

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6
Comparison of Intramedullary Magnetic Nail, Monolateral External Distractor, and Spatial External Fixator in Femur Lengthening in Adolescents with Congenital Diseases
Comparison of Intramedullary Magnetic Nail, Monolateral External Distractor, and Spatial External Fixator in Femur Lengthening in Adolescents with Congenital Diseases
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Comparison of Intramedullary Magnetic Nail, Monolateral External Distractor, and Spatial External Fixator in Femur Lengthening in Adolescents with Congenital Diseases

Journal of clinical medicine, 2021-12, Vol.10 (24), p.5957 [Peer Reviewed Journal]

2021 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. ;2021 by the authors. 2021 ;ISSN: 2077-0383 ;EISSN: 2077-0383 ;DOI: 10.3390/jcm10245957 ;PMID: 34945254

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7
Molecular genetic and clinical aspects of socially relevant viruses underlying congenital diseases
Molecular genetic and clinical aspects of socially relevant viruses underlying congenital diseases
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Molecular genetic and clinical aspects of socially relevant viruses underlying congenital diseases

Infekt͡s︡ii͡a︡ i immunitet, 2021-09, Vol.11 (4), p.635-648 [Peer Reviewed Journal]

ISSN: 2220-7619 ;EISSN: 2313-7398 ;DOI: 10.15789/2220-7619-MGA-1729

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8
Single-cell analysis of developing and azoospermia human testicles reveals central role of Sertoli cells
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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9
Molecular screening of the human parvoviruses B19 and bocavirus 1 in the study of congenital diseases as applied to symptomatic pregnant women and children
Molecular screening of the human parvoviruses B19 and bocavirus 1 in the study of congenital diseases as applied to symptomatic pregnant women and children
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Molecular screening of the human parvoviruses B19 and bocavirus 1 in the study of congenital diseases as applied to symptomatic pregnant women and children

Access microbiology, 2019, Vol.1 (5), p.e000037-e000037 [Peer Reviewed Journal]

2019 The Authors. ;2019 The Authors 2019 ;ISSN: 2516-8290 ;EISSN: 2516-8290 ;DOI: 10.1099/acmi.0.000037 ;PMID: 32974527

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10
Underlying Medical Conditions Associated With Severe COVID-19 Illness Among Children
Underlying Medical Conditions Associated With Severe COVID-19 Illness Among Children
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Underlying Medical Conditions Associated With Severe COVID-19 Illness Among Children

JAMA Network Open, 2021-06, Vol.4 (6), p.e2111182-e2111182 [Peer Reviewed Journal]

2021. This work is published under https://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. ;Copyright 2021 Kompaniyets L et al. . ;ISSN: 2574-3805 ;EISSN: 2574-3805 ;DOI: 10.1001/jamanetworkopen.2021.11182 ;PMID: 34097050

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11
Self-assembling human heart organoids for the modeling of cardiac development and congenital heart disease
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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12
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
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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13
Clinical Course of Two Children with Congenital Plasminogen Deficiency Type 1
Clinical Course of Two Children with Congenital Plasminogen Deficiency Type 1
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Clinical Course of Two Children with Congenital Plasminogen Deficiency Type 1

Turkish Thoracic Journal, 2019-09, Vol.20 (1), p.371-371 [Peer Reviewed Journal]

2019. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the associated terms available at https://turkthoracj.org/en/copyright-1014 ;ISSN: 2149-2530 ;EISSN: 1308-5387 ;DOI: 10.5152/TurkThoracJ.2019.371

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14
SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance
SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance
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SCMR Position Paper (2020) on clinical indications for cardiovascular magnetic resonance

Journal of cardiovascular magnetic resonance, 2020-11, Vol.22 (1), p.76-76, Article 76 [Peer Reviewed Journal]

COPYRIGHT 2020 BioMed Central Ltd. ;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. ;The Author(s) 2020 ;ISSN: 1532-429X ;ISSN: 1097-6647 ;EISSN: 1532-429X ;DOI: 10.1186/s12968-020-00682-4 ;PMID: 33161900

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15
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
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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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16
Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review
Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review
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Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review

PLoS medicine, 2017-01, Vol.14 (1), p.e1002203-e1002203 [Peer Reviewed Journal]

2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Krauer F, Riesen M, Reveiz L, Oladapo OT, Martínez-Vega R, Porgo TV, et al. (2017) Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review. PLoS Med 14(1): e1002203. doi:10.1371/journal.pmed.1002203 ;2017 Krauer et al 2017 Krauer et al ;2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Krauer F, Riesen M, Reveiz L, Oladapo OT, Martínez-Vega R, Porgo TV, et al. (2017) Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review. PLoS Med 14(1): e1002203. doi:10.1371/journal.pmed.1002203 ;ISSN: 1549-1676 ;ISSN: 1549-1277 ;EISSN: 1549-1676 ;DOI: 10.1371/journal.pmed.1002203 ;PMID: 28045901

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17
Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management
Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management
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Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management

Clinical ophthalmology (Auckland, N.Z.), 2016-01, Vol.10 (Issue 1), p.871-878 [Peer Reviewed Journal]

COPYRIGHT 2016 Dove Medical Press Limited ;COPYRIGHT 2016 Dove Medical Press Limited ;2016. This work is licensed under https://creativecommons.org/licenses/by-nc/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2016 Mantelli et al. This work is published and licensed by Dove Medical Press Limited 2016 ;ISSN: 1177-5467 ;ISSN: 1177-5483 ;EISSN: 1177-5483 ;DOI: 10.2147/OPTH.S101963 ;PMID: 27257371

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18
In situ immune response and mechanisms of cell damage in central nervous system of fatal cases microcephaly by Zika virus
In situ immune response and mechanisms of cell damage in central nervous system of fatal cases microcephaly by Zika virus
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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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19
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
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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20
Clinical Features of Varicella-Zoster Virus Infection
Clinical Features of Varicella-Zoster Virus Infection
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Clinical Features of Varicella-Zoster Virus Infection

Viruses, 2018-11, Vol.10 (11), p.609 [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: 1999-4915 ;EISSN: 1999-4915 ;DOI: 10.3390/v10110609 ;PMID: 30400213

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