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1
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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2
Physical activity modification in youth with congenital heart disease: a comprehensive narrative review
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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3
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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4
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
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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5
MVP predicts the pathogenicity of missense variants by deep learning
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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6
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
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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7
Conformational ensemble of the human TRPV3 ion channel
Conformational ensemble of the human TRPV3 ion channel
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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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8
Neuroplacentology in congenital heart disease: placental connections to neurodevelopmental outcomes
Neuroplacentology in congenital heart disease: placental connections to neurodevelopmental outcomes
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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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9
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update
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Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Genetics in medicine, 2020-02, Vol.22 (2), p.268-279 [Peer Reviewed Journal]

2019© American College of Medical Genetics and Genomics 2019 ;American College of Medical Genetics and Genomics 2019. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0647-2 ;PMID: 31534212

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10
Genomic and phenotypic delineation of congenital microcephaly
Genomic and phenotypic delineation of congenital microcephaly
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Genomic and phenotypic delineation of congenital microcephaly

Genetics in medicine, 2019-03, Vol.21 (3), p.545-552 [Peer Reviewed Journal]

Copyright Nature Publishing Group Mar 2019 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0140-3 ;PMID: 30214071

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11
Prevalence of congenital amusia
Prevalence of congenital amusia
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Prevalence of congenital amusia

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.625-630 [Peer Reviewed Journal]

Copyright Nature Publishing Group May 2017 ;Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature. 2017 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2017.15 ;PMID: 28224991

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12
Congenital heart disease detection by pediatric electrocardiogram based deep learning integrated with human concepts
Congenital heart disease detection by pediatric electrocardiogram based deep learning integrated with human concepts
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Congenital heart disease detection by pediatric electrocardiogram based deep learning integrated with human concepts

Nature communications, 2024-02, Vol.15 (1), p.976-976, Article 976 [Peer Reviewed Journal]

2024. The Author(s). ;The Author(s) 2024. 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. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-024-44930-y ;PMID: 38302502

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13
A somatic activating NRAS variant associated with kaposiform lymphangiomatosis
A somatic activating NRAS variant associated with kaposiform lymphangiomatosis
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A somatic activating NRAS variant associated with kaposiform lymphangiomatosis

Genetics in medicine, 2019-07, Vol.21 (7), p.1517-1524 [Peer Reviewed Journal]

2019 The Author(s) ;Copyright Nature Publishing Group Jul 2019 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0390-0 ;PMID: 30542204

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14
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes
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Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

Nature communications, 2023-08, Vol.14 (1), p.4623-4623, Article 4623 [Peer Reviewed Journal]

2023. The Author(s). ;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. ;The Author(s) 2023 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-023-40363-1 ;PMID: 37532691

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15
Generation of patterned kidney organoids that recapitulate the adult kidney collecting duct system from expandable ureteric bud progenitors
Generation of patterned kidney organoids that recapitulate the adult kidney collecting duct system from expandable ureteric bud progenitors
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Generation of patterned kidney organoids that recapitulate the adult kidney collecting duct system from expandable ureteric bud progenitors

Nature communications, 2021-06, Vol.12 (1), p.3641-3641, Article 3641 [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/s41467-021-23911-5 ;PMID: 34131121

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16
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
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Diagnostic exome sequencing in 266 Dutch patients with visual impairment

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.591-599 [Peer Reviewed Journal]

Copyright Nature Publishing Group May 2017 ;Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature. 2017 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2017.9 ;PMID: 28224992

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17
Incidence of primary congenital hypothyroidism over 24 years in Finland
Incidence of primary congenital hypothyroidism over 24 years in Finland
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Incidence of primary congenital hypothyroidism over 24 years in Finland

Pediatric research, 2023-02, Vol.93 (3), p.649-653 [Peer Reviewed Journal]

2022. The Author(s). ;The Author(s) 2022. 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) 2022 ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/s41390-022-02118-4 ;PMID: 35661828

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18
Urea cycle disorders-update
Urea cycle disorders-update
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Urea cycle disorders-update

Journal of human genetics, 2019-09, Vol.64 (9), p.833-847 [Peer Reviewed Journal]

The Author(s), under exclusive licence to The Japan Society of Human Genetics 2019. ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-019-0614-4 ;PMID: 31110235

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19
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

Genetics in medicine, 2021-06, Vol.23 (6), p.1125-1136 [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: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01116-x ;PMID: 33742171

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20
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines
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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

Genetics in medicine, 2020-10, Vol.22 (10), p.1694-1702 [Peer Reviewed Journal]

2020 The Author(s) ;The Author(s) 2020. This work is published under https://creativecommons.org/licenses/by-nc-nd/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: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-020-0869-3 ;PMID: 32595206

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