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1
Sharing is caring: a call for a new era of rare disease research and development
Sharing is caring: a call for a new era of rare disease research and development
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Sharing is caring: a call for a new era of rare disease research and development

Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.389-389, Article 389 [Peer Reviewed Journal]

2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-022-02529-w ;PMID: 36303170

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2
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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3
Scientific evidence based rare disease research discovery with research funding data in knowledge graph
Scientific evidence based rare disease research discovery with research funding data in knowledge graph
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Scientific evidence based rare disease research discovery with research funding data in knowledge graph

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.483-483, Article 483 [Peer Reviewed Journal]

2021. The Author(s). ;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/s13023-021-02120-9 ;PMID: 34794473

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4
Achondroplasia: a comprehensive clinical review
Achondroplasia: a comprehensive clinical review
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Achondroplasia: a comprehensive clinical review

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.1-1, Article 1 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;Copyright © 2019. 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). 2019 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-018-0972-6 ;PMID: 30606190

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5
Health-related quality of life among adults with diverse rare disorders
Health-related quality of life among adults with diverse rare disorders
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Health-related quality of life among adults with diverse rare disorders

Orphanet journal of rare diseases, 2017-12, Vol.12 (1), p.177-177, Article 177 [Peer Reviewed Journal]

COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;The Author(s). 2017 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-017-0730-1 ;PMID: 29212508

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6
Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients
Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients
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Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.102-102, Article 102 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;2019. 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). 2019 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-019-1069-6 ;PMID: 31072340

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7
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
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Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.139-17, Article 139 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;2019. 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). 2019 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-019-1102-9 ;PMID: 31196103

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8
RaDiCo, the French national research program on rare disease cohorts
RaDiCo, the French national research program on rare disease cohorts
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RaDiCo, the French national research program on rare disease cohorts

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-454, Article 454 [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. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2021 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-021-02089-5 ;PMID: 34715889

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9
Childhood Pompe disease: clinical spectrum and genotype in 31 patients
Childhood Pompe disease: clinical spectrum and genotype in 31 patients
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Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.65-65, Article 65 [Peer Reviewed Journal]

COPYRIGHT 2016 BioMed Central Ltd. ;COPYRIGHT 2016 BioMed Central Ltd. ;Copyright BioMed Central 2016 ;van Capelle et al. 2016 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-016-0442-y ;PMID: 27189384

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10
Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies
Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies
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Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies

Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.73-73, Article 73 [Peer Reviewed Journal]

COPYRIGHT 2018 BioMed Central Ltd. ;COPYRIGHT 2018 BioMed Central Ltd. ;The Author(s). 2018 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-018-0815-5 ;PMID: 29728119

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11
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
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A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-306, Article 306 [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/s13023-021-01929-8 ;PMID: 34238334

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12
FGF23 and its role in X-linked hypophosphatemia-related morbidity
FGF23 and its role in X-linked hypophosphatemia-related morbidity
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FGF23 and its role in X-linked hypophosphatemia-related morbidity

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.58-58, Article 58 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;Copyright © 2019. 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). 2019 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-019-1014-8 ;PMID: 30808384

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13
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
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Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.109-109, Article 109 [Peer Reviewed Journal]

COPYRIGHT 2015 BioMed Central Ltd. ;COPYRIGHT 2015 BioMed Central Ltd. ;Copyright BioMed Central 2015 ;Distributed under a Creative Commons Attribution 4.0 International License ;Suhr et al. 2015 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-015-0326-6 ;PMID: 26338094

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14
Congenital myasthenic syndromes
Congenital myasthenic syndromes
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Congenital myasthenic syndromes

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.57-57, Article 57 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;Copyright © 2019. 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). 2019 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-019-1025-5 ;PMID: 30808424

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15
The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review
The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review
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The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.1-237, Article 237 [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/s13023-021-01862-w ;PMID: 34022943

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16
From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research
From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research
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From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research

Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.196-196, Article 196 [Peer Reviewed Journal]

COPYRIGHT 2018 BioMed Central Ltd. ;COPYRIGHT 2018 BioMed Central Ltd. ;Copyright © 2018. 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). 2018 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-018-0936-x ;PMID: 30400963

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17
The use of machine learning in rare diseases: a scoping review
The use of machine learning in rare diseases: a scoping review
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The use of machine learning in rare diseases: a scoping review

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.145-145, Article 145 [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. ;The Author(s) 2020 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01424-6 ;PMID: 32517778

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18
Natural history of lung function in spinal muscular atrophy
Natural history of lung function in spinal muscular atrophy
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Natural history of lung function in spinal muscular atrophy

Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.88-88, Article 88 [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. ;The Author(s) 2020 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-020-01367-y ;PMID: 32276635

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19
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments
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Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.47-47, Article 47 [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/s13023-021-01695-7 ;PMID: 33485382

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20
Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium
Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium
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Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.99-99, Article 99 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;2019. 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). 2019 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-019-1075-8 ;PMID: 31054581

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