Results 1 - 20 of 897 for All Library Resources
Sorted by:
Sorted by:
RelevanceOr hit Enter to replace sort method
- Relevance
- Date-newest
- Date-oldest
- Popularity
- Author
- Title
Show only
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
|
|
Hepatoblastoma in molecularly defined, congenital diseasesAmerican journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2527 [Peer Reviewed Journal]2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62767 ;PMID: 35478319Digital Resources/Online E-Resources |
| 2 |
Material Type: Article
|
|
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of PhiladelphiaAmerican journal of medical genetics. Part A, 2018-10, Vol.176 (10), p.2058 [Peer Reviewed Journal]2018 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.40637 ;PMID: 30380191Digital Resources/Online E-Resources |
| 3 |
Material Type: Article
|
|
Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variantsAmerican journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63500 [Peer Reviewed Journal]2023 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.63500 ;PMID: 38071433Digital Resources/Online E-Resources |
| 4 |
Material Type: Article
|
|
Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literatureAmerican journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2005 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62737 ;PMID: 35338746Digital Resources/Online E-Resources |
| 5 |
Material Type: Article
|
|
ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathwayAmerican journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.90 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62991 ;PMID: 36263470Digital Resources/Online E-Resources |
| 6 |
Material Type: Article
|
|
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiersAmerican journal of medical genetics. Part A, 2018-10, Vol.176 (10), p.2087 [Peer Reviewed Journal]2018 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.38662 ;PMID: 29663641Digital Resources/Online E-Resources |
| 7 |
Material Type: Article
|
|
MYH7 variants cause complex congenital heart diseaseAmerican journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2772 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62766 ;PMID: 35491958Digital Resources/Online E-Resources |
| 8 |
Material Type: Article
|
|
Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts familiesAmerican journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.2888 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62947 ;PMID: 36097645Digital Resources/Online E-Resources |
| 9 |
Material Type: Article
|
|
Long-term outcomes in ALG13-Congenital Disorder of GlycosylationAmerican journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1626 [Peer Reviewed Journal]2023 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.63179 ;PMID: 36930724Digital Resources/Online E-Resources |
| 10 |
Material Type: Article
|
|
Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohortAmerican journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1273 [Peer Reviewed Journal]2023 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.63145 ;PMID: 36751694Digital Resources/Online E-Resources |
| 11 |
Material Type: Article
|
|
Causes of death in patients with Down syndrome in 2014-2016: A population study in JapanAmerican journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.224 [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.62526 ;PMID: 34622557Digital Resources/Online E-Resources |
| 12 |
Material Type: Article
|
|
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic herniaAmerican journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.259 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.63006 ;PMID: 36301021Digital Resources/Online E-Resources |
| 13 |
Material Type: Article
|
|
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revisionAmerican journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.883 [Peer Reviewed Journal]2021 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62598 ;PMID: 34897976Digital Resources/Online E-Resources |
| 14 |
Material Type: Article
|
|
PPP2R1A neurodevelopmental disorder is associated with congenital heart defectsAmerican journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3262 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62946 ;PMID: 36209351Digital Resources/Online E-Resources |
| 15 |
Material Type: Article
|
|
Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhageAmerican journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.265 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.63007 ;PMID: 36282022Digital Resources/Online E-Resources |
| 16 |
Material Type: Article
|
|
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.926 [Peer Reviewed Journal]2021 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62578 ;PMID: 34825470Digital Resources/Online E-Resources |
| 17 |
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 |
| 18 |
Material Type: Article
|
|
Expansion of the clinical phenotype of GALE deficiencyAmerican journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3118 [Peer Reviewed Journal]2021 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62384 ;PMID: 34159722Digital Resources/Online E-Resources |
| 19 |
Material Type: Article
|
|
Pulmonary vascular resistance and compliance in individuals with trisomy 18American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.534 [Peer Reviewed Journal]2021 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62550 ;PMID: 34729911Digital Resources/Online E-Resources |
| 20 |
Material Type: Article
|
|
Gain in growth after surgical repair of congenital heart disease among children with Down syndromeAmerican journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.24 [Peer Reviewed Journal]2021 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62483 ;PMID: 34496118Digital Resources/Online E-Resources |
Results 1 - 20 of 897 for All Library Resources
Sorted by:
Sorted by:
RelevanceOr hit Enter to replace sort method
- Relevance
- Date-newest
- Date-oldest
- Popularity
- Author
- Title
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 | ||