Results 21 - 40 of 897 for All Library Resources
Show only
Refined by:
Journal Title:
American Journal Of Medical Genetics. Part A
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 21 |
Material Type: Article
|
|
Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entityAmerican journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2160-2163 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright 2010 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33575 ;PMID: 20684000Full text available |
| 22 |
Material Type: Article
|
|
Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvementAmerican journal of medical genetics. Part A, 2005-01, Vol.132A (2), p.226-230 [Peer Reviewed Journal]Copyright © 2004 Wiley‐Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.30423 ;PMID: 15580636Full text available |
| 23 |
Material Type: Article
|
|
Rett syndrome: A study of the faceAmerican journal of medical genetics. Part A, 2011-07, Vol.155A (7), p.1563-1567 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34027 ;PMID: 21626673Full text available |
| 24 |
Material Type: Article
|
|
Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeAmerican journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2091-2099 [Peer Reviewed Journal]Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35446 ;PMID: 22821852Full text available |
| 25 |
Material Type: Article
|
|
A Rare Association of Fibromuscular Dysphasia, Renal Agenesis, Renal Arteriovenous Fistulae, and Vertebral Anomalies: Expanding the V in VACTERL AssociationAmerican journal of medical genetics. Part A, 2012, Vol.158 (11), p.2863-2865 [Peer Reviewed Journal]2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833Full text available |
| 26 |
Material Type: Article
|
|
Congenital disorders of glycosylation: The Saudi experienceAmerican journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2614 [Peer Reviewed Journal]2017 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.38358 ;PMID: 28742265Digital Resources/Online E-Resources |
| 27 |
Material Type: Article
|
|
Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)American journal of medical genetics, 1997-06, Vol.70 (4), p.349-352 [Peer Reviewed Journal]Copyright © 1997 Wiley‐Liss, Inc. ;1997 INIST-CNRS ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/(SICI)1096-8628(19970627)70:4<349::AID-AJMG3>3.0.CO;2-O ;PMID: 9182772 ;CODEN: AJMGDAFull text available |
| 28 |
Material Type: Article
|
|
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)American journal of medical genetics. Part A, 2003-02, Vol.117A (1), p.18-20 [Peer Reviewed Journal]Copyright © 2002 Wiley‐Liss, Inc. ;Copyright 2002 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.10934 ;PMID: 12548735Full text available |
| 29 |
Material Type: Article
|
|
Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literatureAmerican journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1241-1248 [Peer Reviewed Journal]Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;(c) 2009 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32685 ;PMID: 19441125Full text available |
| 30 |
Material Type: Article
|
|
SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunctionAmerican journal of medical genetics. Part A, 2011-05, Vol.155 (5), p.1165-1169 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley-Liss, Inc. ;Copyright Wiley Subscription Services, Inc. May 2011 ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33968 ;PMID: 21465659Full text available |
| 31 |
Material Type: Article
|
|
Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndromeAmerican journal of medical genetics. Part A, 2003-02, Vol.116A (4), p.376-380 [Peer Reviewed Journal]Copyright © 2003 Wiley‐Liss, Inc. ;Copyright 2003 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.10025 ;PMID: 12522795Full text available |
| 32 |
Material Type: Article
|
|
Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profilesAmerican journal of medical genetics. Part A, 2006-10, Vol.140A (19), p.2142-2145 [Peer Reviewed Journal]Copyright © 2006 Wiley‐Liss, Inc. ;2006 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31296 ;PMID: 16718676Full text available |
| 33 |
Material Type: Article
|
|
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestationsAmerican journal of medical genetics. Part A, 2011-02, Vol.155A (2), p.442-444 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33814 ;PMID: 21271670Full text available |
| 34 |
Material Type: Article
|
|
Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosisAmerican journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2959-2962 [Peer Reviewed Journal]Copyright © 2007 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;(c) 2007 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31969 ;PMID: 17963257Full text available |
| 35 |
Material Type: Article
|
|
The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotypeAmerican journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.480 [Peer Reviewed Journal]2019 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.61030 ;PMID: 30690882Digital Resources/Online E-Resources |
| 36 |
Material Type: Article
|
|
Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL associationAmerican journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2919-2923 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33718 ;PMID: 20949626Full text available |
| 37 |
Material Type: Article
|
|
Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delayAmerican journal of medical genetics. Part A, 2003-04, Vol.118A (1), p.82-85 [Peer Reviewed Journal]Copyright © 2003 Wiley‐Liss, Inc. ;Copyright 2003 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.10929 ;PMID: 12605448Full text available |
| 38 |
Material Type: Article
|
|
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish familyAmerican journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1251 [Peer Reviewed Journal]2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62610 ;PMID: 34913263Digital Resources/Online E-Resources |
| 39 |
Material Type: Article
|
|
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populationsAmerican journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2562-2570 [Peer Reviewed Journal]Copyright © 2006 Wiley‐Liss, Inc. ;2007 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31367 ;PMID: 17089422Full text available |
| 40 |
Material Type: Article
|
|
A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literatureAmerican journal of medical genetics. Part A, 2011-03, Vol.155 (3), p.638-641 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33839 ;PMID: 21344634Full text available |
Results 21 - 40 of 897 for All Library Resources
Personalize your results
Refine Search Results
Expand My Results
Show only
Refine My Results
Creation Date
- Before 2003 (24)
- 2003 To 2007 (361)
- 2008 To 2012 (442)
- 2013 To 2018 (30)
- After 2018 (41)
-
More options
Subject
- Humans (847)
- Genetics & Heredity (839)
- Life Sciences & Biomedicine (839)
- Science & Technology (839)
- Medical Sciences (825)
- Biological And Medical Sciences (825)
- Medical Genetics (692)
- Female (605)
- Male (524)
- Infant (254)
- Neurology (252)
- Syndrome (241)
- Child (230)
- Child, Preschool (224)
- Phenotype (217)
- Malformations Of The Nervous System (215)
- Infant, Newborn (206)
- Adult (202)
- Abnormalities, Multiple - Genetics (198)
- Genetics (178)
-
More options
Databases
|
||||
 |
INSPIRE LIBRARY - TON DUC THANG UNIVERSITY |  |
(84-028) 37 755 057 | Feedback |
| 19 Nguyen Huu Tho St. Dist.7, HCM |  |
thuvien@tdtu.edu.vn | ||