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Results 1 - 20 of 206  for All Library Resources

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1
Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions
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Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

American 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: 22903695

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2
Generating a taxonomy for genetic conditions relevant to reproductive planning
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Article
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Generating a taxonomy for genetic conditions relevant to reproductive planning

American 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: 26889673

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3
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing
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Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

American 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: 26792268

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4
Nosology and classification of genetic skeletal disorders: 2015 revision
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Nosology and classification of genetic skeletal disorders: 2015 revision

American 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: 26394607

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5
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder
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KCNK9 imprinting syndrome-further delineation of a possible treatable disorder

American 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: 27151206

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6
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS
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Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS

American 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: 27028275

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7
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
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The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

American 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: 27155140

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8
Genetic diseases in the Tunisian population
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Genetic diseases in the Tunisian population

American 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: 21204241

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9
X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry
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X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry

American 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: 24664614

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10
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19
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Article
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Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19

American 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.61911

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11
Is one diagnosis the whole story? patients with double diagnoses
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Is one diagnosis the whole story? patients with double diagnoses

American 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: 27271787

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12
"I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia
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"I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia

American 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: 27150953

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13
Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome
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Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome

American 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: 26701671

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14
Medical genetics education in the midst of the COVID‐19 pandemic: Shared resources
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Article
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Medical genetics education in the midst of the COVID‐19 pandemic: Shared resources

American 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.61595

Digital Resources/Online E-Resources

15
Quality of life in rare genetic conditions: A systematic review of the literature
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Article
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Quality of life in rare genetic conditions: A systematic review of the literature

American 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: 20425818

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16
Nosology and classification of genetic skeletal disorders: 2010 revision
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Article
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Nosology and classification of genetic skeletal disorders: 2010 revision

American 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: 21438135

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17
Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification
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Article
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Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification

American 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: 25790323

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18
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects
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Article
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Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects

American 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: 26059211

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19
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2
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Article
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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

American 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: 26545172

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20
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
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Article
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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

American 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: 23913548

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Results 1 - 20 of 206  for All Library Resources

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