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1-4 of 4
Keywords: Congenital heart disease
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Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol 1–7.
Published Online: 30 October 2024
...Mingwei Li; Shuangxing Wang; Hui Zhang; Bing Meng; Yongjie Wu Background: Advanced molecular mechanism research incorporated with multidisciplinary collaborations on congenital heart disease has prompted new insight into its cause, development, and outcomes. Summary: This literature review aims...
Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Maiara A. Floriani, Andressa S. Santos, Bruna L. Diniz, Andressa B. Glaeser, Paulo R. Gazzola Zen, Rafael F. Machado Rosa
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (1): 1–10.
Published Online: 06 February 2023
...Maiara A. Floriani; Andressa S. Santos; Bruna L. Diniz; Andressa B. Glaeser; Paulo R. Gazzola Zen; Rafael F. Machado Rosa Introduction: Congenital heart disease (CHD) is the most common type of congenital defect reported to be one of the leading causes of mortality in the first year of life...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (6): 517–521.
Published Online: 12 January 2023
...Chihiro Abe-Hatano; Takayuki Yokoi; Kazumi Ida; Kenji Kurosawa Introduction: Calcium/calmodulin-dependent serine protein kinase ( CASK ) gene mutations cause microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability. Congenital heart disease (CHD) is a rare...
Journal Articles
Sinem Yalcintepe, Drenushe Zhuri, Hazal Sezginer Guler, Engin Atli, Selma Demir, Emine Ikbal Atli, Cisem Mail, Hakan Gurkan
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (3): 235–239.
Published Online: 01 February 2022
...Sinem Yalcintepe; Drenushe Zhuri; Hazal Sezginer Guler; Engin Atli; Selma Demir; Emine Ikbal Atli; Cisem Mail; Hakan Gurkan Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease...