skip to main content
Language:
Search Limited to: Search Limited to: Resource type Show Results with: Show Results with: Search type Index
Including "genetic disorders"   Just search Congenital diseases

Results 1 - 20 of 168,160  for All Library Resources

Sorted by: Sorted by: RelevanceOr hit Enter to replace sort method
Results 1 2 3 4 5 next page
Show only
Refined by: subject: Neurosciences & Neurology remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
Material Type:
Article 		Add to My Research

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Annals of neurology, 2012-10, Vol.72 (4), p.550-558 [Peer Reviewed Journal]

Copyright © 2012 American Neurological Association ;2014 INIST-CNRS ;Copyright © 2012 American Neurological Association. ;ISSN: 0364-5134 ;EISSN: 1531-8249 ;DOI: 10.1002/ana.23632 ;PMID: 23109149 ;CODEN: ANNED3

Full text available

Citations Cited by
2
Evaluation of Neurological and Auditory Development in Children with Congenital Heart Disease using Essence Q Questionnaire and Auditory Brainstem Response (ABR) Test
Evaluation of Neurological and Auditory Development in Children with Congenital Heart Disease using Essence Q Questionnaire and Auditory Brainstem Response (ABR) Test
Material Type:
Article 		Add to My Research

Evaluation of Neurological and Auditory Development in Children with Congenital Heart Disease using Essence Q Questionnaire and Auditory Brainstem Response (ABR) Test

Iranian journal of child neurology, 2024-01, Vol.18 (1), p.43

2023 The Authors. ;Copyright Iranian Child Neurology Society Winter 2024 ;ISSN: 1735-4668 ;EISSN: 2008-0700 ;DOI: 10.22037/ijcn.v18i1.39186 ;PMID: 38375124

Full text available

Citations Cited by
3
Co-occurring conditions in children with Down syndrome and autism: a retrospective study
Co-occurring conditions in children with Down syndrome and autism: a retrospective study
Material Type:
Article 		Add to My Research

Co-occurring conditions in children with Down syndrome and autism: a retrospective study

Journal of neurodevelopmental disorders, 2023-03, Vol.15 (1), p.9-9, Article 9 [Peer Reviewed Journal]

2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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) 2023 ;ISSN: 1866-1955 ;ISSN: 1866-1947 ;EISSN: 1866-1955 ;DOI: 10.1186/s11689-023-09478-w ;PMID: 36864370

Full text available

Citations Cited by
4
Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects
Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects
Material Type:
Article 		Add to My Research

Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects

Journal of neurodevelopmental disorders, 2023-05, Vol.15 (1), p.15-15, Article 15 [Peer Reviewed Journal]

2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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) 2023 ;ISSN: 1866-1955 ;ISSN: 1866-1947 ;EISSN: 1866-1955 ;DOI: 10.1186/s11689-023-09484-y ;PMID: 37173621

Full text available

Citations Cited by
5
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
Material Type:
Article 		Add to My Research

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Neuron (Cambridge, Mass.), 2018-02, Vol.97 (3), p.488-493 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Feb 7, 2018 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.01.015 ;PMID: 29420931

Full text available

Citations Cited by
6
Targeting molecular pathways for the treatment of inherited retinal degeneration
Targeting molecular pathways for the treatment of inherited retinal degeneration
Material Type:
Article 		Add to My Research

Targeting molecular pathways for the treatment of inherited retinal degeneration

Neural regeneration research, 2020-10, Vol.15 (10), p.1784-1791 [Peer Reviewed Journal]

COPYRIGHT 2020 Medknow Publications and Media Pvt. Ltd. ;2020. This article is published under (http://creativecommons.org/licenses/by-nc-sa/3.0/) (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Copyright © Wanfang Data Co. Ltd. All Rights Reserved. ;Copyright: © 2020 Neural Regeneration Research 2020 ;ISSN: 1673-5374 ;EISSN: 1876-7958 ;DOI: 10.4103/1673-5374.280303 ;PMID: 32246618

Full text available

Citations Cited by
7
Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review
Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review
Material Type:
Article 		Add to My Research

Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review

Journal of neurology, 2017-07, Vol.264 (7), p.1320-1333 [Peer Reviewed Journal]

Springer-Verlag Berlin Heidelberg 2016 ;Journal of Neurology is a copyright of Springer, 2017. ;ISSN: 0340-5354 ;EISSN: 1432-1459 ;DOI: 10.1007/s00415-016-8350-6 ;PMID: 27888415

Full text available

Citations Cited by
8
Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)
Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)
Material Type:
Article 		Add to My Research

Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)

Frontiers in neuroscience, 2021-01, Vol.14, p.615666-615666 [Peer Reviewed Journal]

Copyright © 2021 Di Lascio, Benfante, Cardani and Fornasari. ;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. ;Copyright © 2021 Di Lascio, Benfante, Cardani and Fornasari. 2021 Di Lascio, Benfante, Cardani and Fornasari ;ISSN: 1662-4548 ;ISSN: 1662-453X ;EISSN: 1662-453X ;DOI: 10.3389/fnins.2020.615666 ;PMID: 33510615

Full text available

Citations Cited by
9
Elevated level of creatine phosphokinase in newborn: Clinical significance and association with congenital muscle diseases
Elevated level of creatine phosphokinase in newborn: Clinical significance and association with congenital muscle diseases
Material Type:
Article 		Add to My Research

Elevated level of creatine phosphokinase in newborn: Clinical significance and association with congenital muscle diseases

Neurosciences (Riyadh, Saudi Arabia), 2022-10, Vol.27 (4), p.263-269 [Peer Reviewed Journal]

Copyright: © Neurosciences. ;COPYRIGHT 2022 Saudi Medical Journal ;Copyright: © Neurosciences 2022 ;ISSN: 1319-6138 ;EISSN: 1319-6138 ;DOI: 10.17712/nsj.2022.4.20220051 ;PMID: 36252976

Full text available

Citations Cited by
10
Italian recommendations for diagnosis and management of congenital myasthenic syndromes
Italian recommendations for diagnosis and management of congenital myasthenic syndromes
Material Type:
Article 		Add to My Research

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Neurological sciences, 2019-03, Vol.40 (3), p.457-468 [Peer Reviewed Journal]

Fondazione Società Italiana di Neurologia 2018 ;Neurological Sciences is a copyright of Springer, (2018). All Rights Reserved. ;ISSN: 1590-1874 ;EISSN: 1590-3478 ;DOI: 10.1007/s10072-018-3682-x ;PMID: 30554356

Full text available

Citations Cited by
11
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study
Material Type:
Article 		Add to My Research

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study

Frontiers in human neuroscience, 2020-12, Vol.14, p.560860-560860 [Peer Reviewed Journal]

Copyright © 2020 Della Marina, Wibbeler, Abicht, Kölbel, Lochmüller, Roos and Schara. ;COPYRIGHT 2020 Frontiers Research Foundation ;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. ;Copyright © 2020 Della Marina, Wibbeler, Abicht, Kölbel, Lochmüller, Roos and Schara. 2020 Della Marina, Wibbeler, Abicht, Kölbel, Lochmüller, Roos and Schara ;ISSN: 1662-5161 ;EISSN: 1662-5161 ;DOI: 10.3389/fnhum.2020.560860 ;PMID: 33364925

Full text available

Citations Cited by
12
Joubert syndrome: congenital cerebellar ataxia with the molar tooth
Joubert syndrome: congenital cerebellar ataxia with the molar tooth
Material Type:
Article 		Add to My Research

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

Lancet neurology, 2013-09, Vol.12 (9), p.894-905 [Peer Reviewed Journal]

Elsevier Ltd ;2013 Elsevier Ltd ;Copyright © 2013 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Sep 2013 ;2013 Elsevier Ltd. All rights reserved. 2013 ;ISSN: 1474-4422 ;EISSN: 1474-4465 ;DOI: 10.1016/S1474-4422(13)70136-4 ;PMID: 23870701 ;CODEN: LANCAO

Full text available

Citations Cited by
13
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
Material Type:
Article 		Add to My Research

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

BMC neurology, 2022-08, Vol.22 (1), p.1-292, Article 292 [Peer Reviewed Journal]

COPYRIGHT 2022 BioMed Central Ltd. ;2022. 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) 2022 ;ISSN: 1471-2377 ;EISSN: 1471-2377 ;DOI: 10.1186/s12883-022-02822-y ;PMID: 35932018

Full text available

Citations Cited by
14
Multi-Slice Radiomic Analysis of Apparent Diffusion Coefficient Metrics Improves Evaluation of Brain Alterations in Neonates With Congenital Heart Diseases
Multi-Slice Radiomic Analysis of Apparent Diffusion Coefficient Metrics Improves Evaluation of Brain Alterations in Neonates With Congenital Heart Diseases
Material Type:
Article 		Add to My Research

Multi-Slice Radiomic Analysis of Apparent Diffusion Coefficient Metrics Improves Evaluation of Brain Alterations in Neonates With Congenital Heart Diseases

Frontiers in neurology, 2020-12, Vol.11, p.586518-586518 [Peer Reviewed Journal]

Copyright © 2020 Zhu, Zhao, Wang, Zhou, Wang, Mo, Yang and Sun. ;COPYRIGHT 2020 Frontiers Research Foundation ;Copyright © 2020 Zhu, Zhao, Wang, Zhou, Wang, Mo, Yang and Sun. 2020 Zhu, Zhao, Wang, Zhou, Wang, Mo, Yang and Sun ;ISSN: 1664-2295 ;EISSN: 1664-2295 ;DOI: 10.3389/fneur.2020.586518 ;PMID: 33362694

Full text available

Citations Cited by
15
Influence of Background Musical Emotions on Attention in Congenital Amusia
Influence of Background Musical Emotions on Attention in Congenital Amusia
Material Type:
Article 		Add to My Research

Influence of Background Musical Emotions on Attention in Congenital Amusia

Frontiers in human neuroscience, 2021-01, Vol.14, p.566841-566841 [Peer Reviewed Journal]

Copyright © 2021 Fernandez, Vuilleumier, Gosselin and Peretz. ;COPYRIGHT 2021 Frontiers Research Foundation ;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. ;Copyright © 2021 Fernandez, Vuilleumier, Gosselin and Peretz. 2021 Fernandez, Vuilleumier, Gosselin and Peretz ;ISSN: 1662-5161 ;EISSN: 1662-5161 ;DOI: 10.3389/fnhum.2020.566841 ;PMID: 33568976

Full text available

Citations Cited by
16
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants
Material Type:
Article 		Add to My Research

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants

BMC neurology, 2020-07, Vol.20 (1), p.1-278, Article 278 [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: 1471-2377 ;EISSN: 1471-2377 ;DOI: 10.1186/s12883-020-01854-6 ;PMID: 32660532

Full text available

Citations Cited by
17
Is Congenital Amusia a Disconnection Syndrome? A Study Combining Tract- and Network-Based Analysis
Is Congenital Amusia a Disconnection Syndrome? A Study Combining Tract- and Network-Based Analysis
Material Type:
Article 		Add to My Research

Is Congenital Amusia a Disconnection Syndrome? A Study Combining Tract- and Network-Based Analysis

Frontiers in human neuroscience, 2017-09, Vol.11, p.473-473 [Peer Reviewed Journal]

COPYRIGHT 2017 Frontiers Research Foundation ;2017. 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. ;Copyright © 2017 Wang, Zhang, Wan and Peng. 2017 Wang, Zhang, Wan and Peng ;ISSN: 1662-5161 ;EISSN: 1662-5161 ;DOI: 10.3389/fnhum.2017.00473 ;PMID: 29033806

Full text available

Citations Cited by
18
Pedicle subtraction osteotomy in patient with congenital kyphosis
Pedicle subtraction osteotomy in patient with congenital kyphosis
Material Type:
Article 		Add to My Research

Pedicle subtraction osteotomy in patient with congenital kyphosis

Egyptian journal of neurosurgery, 2024-12, Vol.39 (1), p.17-5 [Peer Reviewed Journal]

The Author(s) 2024 ;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. ;EISSN: 2520-8225 ;DOI: 10.1186/s41984-024-00283-8

Full text available

Citations Cited by
19
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
Material Type:
Article 		Add to My Research

Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient

Brain sciences, 2023-08, Vol.13 (8), p.1210 [Peer Reviewed Journal]

COPYRIGHT 2023 MDPI AG ;2023 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. ;2023 by the authors. 2023 ;ISSN: 2076-3425 ;EISSN: 2076-3425 ;DOI: 10.3390/brainsci13081210 ;PMID: 37626566

Full text available

Citations Cited by
20
Considerations in Adult Congenital Heart Disease and Stroke: A Case Report
Considerations in Adult Congenital Heart Disease and Stroke: A Case Report
Material Type:
Article 		Add to My Research

Considerations in Adult Congenital Heart Disease and Stroke: A Case Report

Stroke (1970), 2020-08, Vol.51 (8), p.e148-e150 [Peer Reviewed Journal]

2020 American Heart Association, Inc. ;ISSN: 0039-2499 ;EISSN: 1524-4628 ;DOI: 10.1161/STROKEAHA.119.028605

Full text available

Citations Cited by

Results 1 - 20 of 168,160  for All Library Resources

Sorted by: Sorted by: RelevanceOr hit Enter to replace sort method
Results 1 2 3 4 5 next page

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Show only

  1. Peer-reviewed Journals (165,769)

Refine My Results

Creation Date 

From To
Refine
  1. Before 1962  (50)
  2. 1962 To 1976  (612)
  3. 1977 To 1991  (3,220)
  4. 1992 To 2007  (40,218)
  5. After 2007  (124,240)
  6. More options open sub menu

Resource Type 

  1. Articles  (167,404)
  2. Book Chapters  (601)
  3. Books  (86)
  4. Reviews  (62)
  5. Conference Proceedings  (7)
  6. More options open sub menu

Subject 

  1. Life Sciences & Biomedicine  (168,153)
  2. Science & Technology  (168,153)
  3. Neurosciences  (124,285)
  4. Humans  (101,460)
  5. Clinical Neurology  (77,719)
  6. Male  (66,810)
  7. Female  (58,888)
  8. Neurology  (54,782)
  9. Animals  (44,183)
  10. Biological And Medical Sciences  (37,396)
  11. Adult  (35,634)
  12. Medical Sciences  (33,501)
  13. Middle Aged  (27,107)
  14. Psychiatry  (26,898)
  15. Mice  (18,816)
  16. Magnetic Resonance Imaging  (18,741)
  17. Aged  (18,630)
  18. Neuroimaging  (18,061)
  19. Brain  (16,476)
  20. More options open sub menu

Language 

  1. English  (167,643)
  2. Japanese  (33,568)
  3. Portuguese  (560)
  4. Spanish  (479)
  5. Norwegian  (244)
  6. Dutch  (162)
  7. French  (129)
  8. German  (127)
  9. Turkish  (70)
  10. Polish  (29)
  11. Russian  (23)
  12. Chinese  (14)
  13. Italian  (3)
  14. Swedish  (2)
  15. More options open sub menu
INSPIRE LIBRARY - TON DUC THANG UNIVERSITY (84-028) 37 755 057 Feedback
19 Nguyen Huu Tho St. Dist.7, HCM thuvien@tdtu.edu.vn

Copyright © 2017 INSPIRE LIBRARY - TON DUC THANG UNIVERSITY

Searching Remote Databases, Please Wait