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 26,431  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: Medical Sciences remove subject: Psychology. Psychoanalysis. Psychiatry remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
Material Type:
Article 		Add to My Research

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

Am J Med Genet B Neuropsychiatr Genet, 2007-06, Vol.144B (4), p.484-491 [Peer Reviewed Journal]

Copyright © 2007 Wiley‐Liss, Inc. ;2007 INIST-CNRS ;(c) 2007 Wiley-Liss, Inc. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1552-4841 ;EISSN: 1552-485X ;DOI: 10.1002/ajmg.b.30493 ;PMID: 17427195

Full text available

Citations Cited by
2
Mothers' Attachment Style, Their Mental Health, and Their Children's Emotional Vulnerabilities: A 7-Year Study of Children With Congenital Heart Disease
Mothers' Attachment Style, Their Mental Health, and Their Children's Emotional Vulnerabilities: A 7-Year Study of Children With Congenital Heart Disease
Material Type:
Article 		Add to My Research

Mothers' Attachment Style, Their Mental Health, and Their Children's Emotional Vulnerabilities: A 7-Year Study of Children With Congenital Heart Disease

Journal of personality, 2008-02, Vol.76 (1), p.31-66 [Peer Reviewed Journal]

2008 INIST-CNRS ;2007, Blackwell Publishing, Inc. ;ISSN: 0022-3506 ;EISSN: 1467-6494 ;DOI: 10.1111/j.1467-6494.2007.00479.x ;PMID: 18186710 ;CODEN: JOPEAE

Full text available

Citations Cited by
3
Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions
Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions
Material Type:
Article 		Add to My Research

Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1240-1247 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Nature Publishing Group Dec 2012 ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.95 ;PMID: 22617343

Full text available

Citations Cited by
4
Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
Material Type:
Article 		Add to My Research

Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

American journal of medical genetics. Part A, 2011-12, Vol.155 (12), p.3042-3049 [Peer Reviewed Journal]

Copyright © 2011 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley Periodicals, Inc. 2011 ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34173 ;PMID: 22002901

Full text available

Citations Cited by
5
The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings' psychosocial adjustment
The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings' psychosocial adjustment
Material Type:
Article 		Add to My Research

The impact of Prader-Willi syndrome on the family's quality of life and caregiving, and the unaffected siblings' psychosocial adjustment

Journal of intellectual disability research, 2013-09, Vol.57 (9), p.861-873 [Peer Reviewed Journal]

2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID ;2015 INIST-CNRS ;2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID. ;Copyright Blackwell Publishing Ltd. Sep 2013 ;ISSN: 0964-2633 ;EISSN: 1365-2788 ;DOI: 10.1111/j.1365-2788.2012.01634.x ;PMID: 23057501 ;CODEN: JIDREN

Full text available

Citations Cited by
6
Being reliable: issues in determining the reliability and making sense of observations of adults with congenital deafblindness?
Being reliable: issues in determining the reliability and making sense of observations of adults with congenital deafblindness?
Material Type:
Article 		Add to My Research

Being reliable: issues in determining the reliability and making sense of observations of adults with congenital deafblindness?

Journal of intellectual disability research, 2012-06, Vol.56 (6), p.632-640 [Peer Reviewed Journal]

2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd ;2015 INIST-CNRS ;2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd. ;Copyright Blackwell Publishing Ltd. Jun 2012 ;ISSN: 0964-2633 ;EISSN: 1365-2788 ;DOI: 10.1111/j.1365-2788.2011.01503.x ;PMID: 22142395

Full text available

Citations Cited by
7
PTEN mutation in a family with Cowden syndrome and autism
PTEN mutation in a family with Cowden syndrome and autism
Material Type:
Article 		Add to My Research

PTEN mutation in a family with Cowden syndrome and autism

American journal of medical genetics, 2001-08, Vol.105 (6), p.521-524 [Peer Reviewed Journal]

Copyright © 2001 Wiley‐Liss, Inc. ;2002 INIST-CNRS ;Copyright 2001 Wiley-Liss, Inc. ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.1477 ;PMID: 11496368 ;CODEN: AJMGDA

Full text available

Citations Cited by
8
Effect of congenital heart defects on language development in toddlers with Down syndrome
Effect of congenital heart defects on language development in toddlers with Down syndrome
Material Type:
Article 		Add to My Research

Effect of congenital heart defects on language development in toddlers with Down syndrome

Journal of intellectual disability research, 2013-09, Vol.57 (9), p.887-892 [Peer Reviewed Journal]

2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID ;2015 INIST-CNRS ;2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID. ;Copyright Blackwell Publishing Ltd. Sep 2013 ;2012 The Authors. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd 2012 ;ISSN: 0964-2633 ;EISSN: 1365-2788 ;DOI: 10.1111/j.1365-2788.2012.01619.x ;PMID: 22998351 ;CODEN: JIDREN

Full text available

Citations Cited by
9
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother
Material Type:
Article 		Add to My Research

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.540-546 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Nature Publishing Group May 2012 ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2011.244 ;PMID: 22234155

Full text available

Citations Cited by
10
Psychological and Cognitive Functioning in Children and Adolescents with Congenital Heart Disease: A Meta-Analysis
Psychological and Cognitive Functioning in Children and Adolescents with Congenital Heart Disease: A Meta-Analysis
Material Type:
Article 		Add to My Research

Psychological and Cognitive Functioning in Children and Adolescents with Congenital Heart Disease: A Meta-Analysis

Journal of pediatric psychology, 2007-06, Vol.32 (5), p.527-541 [Peer Reviewed Journal]

The Author 2006. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org 2006 ;2007 INIST-CNRS ;ISSN: 0146-8693 ;EISSN: 1465-735X ;DOI: 10.1093/jpepsy/jsl047 ;PMID: 17182669 ;CODEN: JPPSDW

Full text available

Citations Cited by
11
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
Material Type:
Article 		Add to My Research

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.580-583 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Nature Publishing Group May 2012 ;Copyright © 2012 Macmillan Publishers Limited 2012 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2011.243 ;PMID: 22258531

Full text available

Citations Cited by
12
Genotype-phenotype correlations in Rubinstein-Taybi syndrome
Genotype-phenotype correlations in Rubinstein-Taybi syndrome
Material Type:
Article 		Add to My Research

Genotype-phenotype correlations in Rubinstein-Taybi syndrome

American journal of medical genetics. Part A, 2008-10, Vol.146A (19), p.2512-2519 [Peer Reviewed Journal]

Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;Copyright 2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32424 ;PMID: 18792986

Full text available

Citations Cited by
13
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
Material Type:
Article 		Add to My Research

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel

European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.250-253 [Peer Reviewed Journal]

2007 INIST-CNRS ;Copyright Nature Publishing Group Feb 2007 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201750 ;PMID: 17149387

Full text available

Citations Cited by
14
Brief Report: S6 Ribosomal Protein Phosphorylation in Autistic Frontal Cortex and Cerebellum: A Tissue Array Analysis
Brief Report: S6 Ribosomal Protein Phosphorylation in Autistic Frontal Cortex and Cerebellum: A Tissue Array Analysis
Material Type:
Article 		Add to My Research

Brief Report: S6 Ribosomal Protein Phosphorylation in Autistic Frontal Cortex and Cerebellum: A Tissue Array Analysis

Journal of autism and developmental disorders, 2006-11, Vol.36 (8), p.1131-1135 [Peer Reviewed Journal]

2007 INIST-CNRS ;Springer Science+Business Media, LLC 2006 ;ISSN: 0162-3257 ;EISSN: 1573-3432 ;DOI: 10.1007/s10803-006-0135-9 ;PMID: 16845579 ;CODEN: JADDDQ

Full text available

Citations Cited by
15
Exploring causal pathways of child behavior and maternal mental health in families with a child with congenital heart disease: a longitudinal study
Exploring causal pathways of child behavior and maternal mental health in families with a child with congenital heart disease: a longitudinal study
Material Type:
Article 		Add to My Research

Exploring causal pathways of child behavior and maternal mental health in families with a child with congenital heart disease: a longitudinal study

Psychological medicine, 2014-12, Vol.44 (16), p.3421-3433 [Peer Reviewed Journal]

Copyright © Cambridge University Press 2013 ;2015 INIST-CNRS ;ISSN: 0033-2917 ;EISSN: 1469-8978 ;DOI: 10.1017/S0033291713002894 ;PMID: 24286537 ;CODEN: PSMDCO

Full text available

Citations Cited by
16
MR Imaging of Congenital or Developmental Neuropathic Strabismus: Common and Uncommon Findings
MR Imaging of Congenital or Developmental Neuropathic Strabismus: Common and Uncommon Findings
Material Type:
Article 		Add to My Research

MR Imaging of Congenital or Developmental Neuropathic Strabismus: Common and Uncommon Findings

American journal of neuroradiology : AJNR, 2012-12, Vol.33 (11), p.2056-2061 [Peer Reviewed Journal]

2015 INIST-CNRS ;2012 by American Journal of Neuroradiology 2012 ;ISSN: 0195-6108 ;EISSN: 1936-959X ;DOI: 10.3174/ajnr.A3136 ;PMID: 22595903 ;CODEN: AAJNDL

Full text available

Citations Cited by
17
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation
Material Type:
Article 		Add to My Research

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation

American journal of medical genetics. Part A, 2012-12, Vol.158A (12), p.3119-3125 [Peer Reviewed Journal]

Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35642 ;PMID: 23165795

Full text available

Citations Cited by
18
Down syndrome: a cardiovascular perspective
Down syndrome: a cardiovascular perspective
Material Type:
Article 		Add to My Research

Down syndrome: a cardiovascular perspective

Journal of intellectual disability research, 2009-05, Vol.53 (5), p.419-425 [Peer Reviewed Journal]

2009 The Authors. Journal Compilation © 2009 Blackwell Publishing Ltd ;2009 INIST-CNRS ;Copyright Blackwell Publishing Ltd. May 2009 ;ISSN: 0964-2633 ;EISSN: 1365-2788 ;DOI: 10.1111/j.1365-2788.2009.01158.x ;PMID: 19228275 ;CODEN: JIDREN

Full text available

Citations Cited by
19
Differentiating characteristics of deafblindness and autism in people with congenital deafblindness and profound intellectual disability
Differentiating characteristics of deafblindness and autism in people with congenital deafblindness and profound intellectual disability
Material Type:
Article 		Add to My Research

Differentiating characteristics of deafblindness and autism in people with congenital deafblindness and profound intellectual disability

Journal of intellectual disability research, 2009-06, Vol.53 (6), p.548-558 [Peer Reviewed Journal]

2009 The Authors. Journal Compilation © 2009 Blackwell Publishing Ltd ;2009 INIST-CNRS ;Copyright Blackwell Publishing Ltd. Jun 2009 ;ISSN: 0964-2633 ;EISSN: 1365-2788 ;DOI: 10.1111/j.1365-2788.2009.01175.x ;PMID: 19457155 ;CODEN: JIDREN

Full text available

Citations Cited by
20
22q11 deletion: a multisystem disorder requiring multidisciplinary input
22q11 deletion: a multisystem disorder requiring multidisciplinary input
Material Type:
Article 		Add to My Research

22q11 deletion: a multisystem disorder requiring multidisciplinary input

Archives of disease in childhood, 2003-06, Vol.88 (6), p.523-524 [Peer Reviewed Journal]

Copyright 2003 Archives of Disease in Childhood ;2003 INIST-CNRS ;COPYRIGHT 2003 BMJ Publishing Group Ltd. ;Copyright: 2003 Copyright 2003 Archives of Disease in Childhood ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/adc.88.6.523 ;PMID: 12765922 ;CODEN: ADCHAK

Full text available

Citations Cited by

Results 1 - 20 of 26,431  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 (25,212)

Refine My Results

Creation Date 

From To
Refine
  1. Before 1987  (537)
  2. 1987 To 1992  (1,275)
  3. 1993 To 1998  (2,707)
  4. 1999 To 2005  (6,850)
  5. After 2005  (15,063)
  6. More options open sub menu

Resource Type 

  1. Articles  (26,399)
  2. Conference Proceedings  (31)
  3. Books  (1)
  4. More options open sub menu

Subject 

  1. Psychopathology. Psychiatry  (24,675)
  2. Humans  (22,839)
  3. Science & Technology  (20,994)
  4. Life Sciences & Biomedicine  (20,834)
  5. Male  (17,142)
  6. Female  (16,573)
  7. Adult And Adolescent Clinical Studies  (16,049)
  8. Psychiatry  (14,945)
  9. Adult  (11,204)
  10. Social Sciences  (8,210)
  11. Adolescent  (7,170)
  12. Psychology  (6,772)
  13. Middle Aged  (6,552)
  14. Neurosciences & Neurology  (6,451)
  15. Child  (6,002)
  16. Neurosciences  (5,837)
  17. Risk Factors  (4,797)
  18. More options open sub menu

Language 

  1. Japanese  (4,442)
  2. French  (77)
  3. German  (29)
  4. Portuguese  (7)
  5. Spanish  (4)
  6. Norwegian  (1)
  7. 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