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American Journal Of Medical Genetics. Part A
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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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 |
| 2 |
Material Type: Article
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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 |
| 3 |
Material Type: Article
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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 |
| 4 |
Material Type: Article
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First implication of MIP in bilateral microphthalmia with persistent fetal vasculatureAmerican journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1373 [Peer Reviewed Journal]2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.63133 ;PMID: 36734406Digital Resources/Online E-Resources |
| 5 |
Material Type: Article
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Gillessen-Kaesbach-Nishimura syndrome in two fetuses from TurkeyAmerican journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.617 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.63024 ;PMID: 36326140Digital Resources/Online E-Resources |
| 6 |
Material Type: Article
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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 |
| 7 |
Material Type: Article
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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 |
| 8 |
Material Type: Article
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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 |
| 9 |
Material Type: Article
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Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndromeAmerican journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3505 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62926 ;PMID: 35943247Digital Resources/Online E-Resources |
| 10 |
Material Type: Article
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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 |
| 11 |
Material Type: Article
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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 |
| 12 |
Material Type: Article
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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 |
| 13 |
Material Type: Article
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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 |
| 14 |
Material Type: Article
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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 |
| 15 |
Material Type: Article
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The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variantAmerican journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1184 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62638 ;PMID: 35018717Digital Resources/Online E-Resources |
| 16 |
Material Type: Article
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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 |
| 17 |
Material Type: Article
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnosesAmerican journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.735 [Peer Reviewed Journal]2021 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62565 ;PMID: 34816580Digital Resources/Online E-Resources |
| 18 |
Material Type: Article
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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 |
| 19 |
Material Type: Article
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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 |
| 20 |
Material Type: Article
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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 |
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