Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Article
|
Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directionsAmerican journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2629-2640 [Peer Reviewed Journal]Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35551 ;PMID: 22903695Full text available |
|
2 |
Material Type: Article
|
Generating a taxonomy for genetic conditions relevant to reproductive planningAmerican journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.565-573 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37513 ;PMID: 26889673Full text available |
|
3 |
Material Type: Article
|
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencingAmerican journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.574-582 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37477 ;PMID: 26792268Full text available |
|
4 |
Material Type: Article
|
Nosology and classification of genetic skeletal disorders: 2015 revisionAmerican journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.2869-2892 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37365 ;PMID: 26394607Full text available |
|
5 |
Material Type: Article
|
KCNK9 imprinting syndrome-further delineation of a possible treatable disorderAmerican journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2632-2637 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37740 ;PMID: 27151206Full text available |
|
6 |
Material Type: Article
|
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOSAmerican journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1520-1524 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37637 ;PMID: 27028275Full text available |
|
7 |
Material Type: Article
|
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathwayAmerican Journal of Medical Genetics Part A, 2016-08, Vol.170A (8), p.1959-1966 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37723 ;PMID: 27155140Full text available |
|
8 |
Material Type: Article
|
Genetic diseases in the Tunisian populationAmerican journal of medical genetics. Part A, 2011-01, Vol.155A (1), p.238-267 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2010 Wiley-Liss, Inc. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33771 ;PMID: 21204241Full text available |
|
9 |
Material Type: Article
|
X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registryAmerican journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2437-2442 [Peer Reviewed Journal]2014 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36436 ;PMID: 24664614Full text available |
|
10 |
Material Type: Article
|
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19American Journal of Medical Genetics Part A, 2021-01 [Peer Reviewed Journal]2020. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the associated terms available at https://novel-coronavirus.onlinelibrary.wiley.com ;DOI: 10.1002/ajmg.a.61911Digital Resources/Online E-Resources |
|
11 |
Material Type: Article
|
Is one diagnosis the whole story? patients with double diagnosesAmerican journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2338-2348 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37799 ;PMID: 27271787Full text available |
|
12 |
Material Type: Article
|
"I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in AustraliaAmerican journal of medical genetics. Part A, 2016-08, Vol.170A (8), p.2052-2059 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37697 ;PMID: 27150953Full text available |
|
13 |
Material Type: Article
|
Mild humoral immunodeficiency in a patient with X-linked Kabuki syndromeAmerican journal of medical genetics. Part A, 2016-03, Vol.170A (3), p.801-803 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37499 ;PMID: 26701671Full text available |
|
14 |
Material Type: Article
|
Medical genetics education in the midst of the COVID‐19 pandemic: Shared resourcesAmerican Journal of Medical Genetics Part A, 2020-06 [Peer Reviewed Journal]2020. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the associated terms available at https://novel-coronavirus.onlinelibrary.wiley.com ;DOI: 10.1002/ajmg.a.61595Digital Resources/Online E-Resources |
|
15 |
Material Type: Article
|
Quality of life in rare genetic conditions: A systematic review of the literatureAmerican journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1136-1156 [Peer Reviewed Journal]This article is a US Government work and, as such, is in the public domain in the United States of America. Published 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright 2010 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33380 ;PMID: 20425818Full text available |
|
16 |
Material Type: Article
|
Nosology and classification of genetic skeletal disorders: 2010 revisionAmerican journal of medical genetics. Part A, 2011-05, Vol.155A (5), p.943-968 [Peer Reviewed Journal]Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley-Liss, Inc. ;Copyright Wiley Subscription Services, Inc. May 2011 ;Copyright © 2011 Wiley-Liss, Inc. 2011 ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33909 ;PMID: 21438135Full text available |
|
17 |
Material Type: Article
|
Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identificationAmerican journal of medical genetics. Part A, 2015-05, Vol.167A (5), p.931-973 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36934 ;PMID: 25790323Full text available |
|
18 |
Material Type: Article
|
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defectsAmerican journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2459-2462 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37176 ;PMID: 26059211Full text available |
|
19 |
Material Type: Article
|
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.392-402 [Peer Reviewed Journal]2015 Wiley Periodicals, Inc. ;2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37452 ;PMID: 26545172Full text available |
|
20 |
Material Type: Article
|
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disordersAmerican journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2174-2182 [Peer Reviewed Journal]Copyright © 2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36049 ;PMID: 23913548Full text available |