A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy (English)
- New search for: Zhang, Shu‐Bing
- New search for: Liu, Yu‐Xing
- New search for: Fan, Liang‐Liang
- New search for: Huang, Hao
- New search for: Li, Jing‐Jing
- New search for: Jin, Jie‐Yuan
- New search for: Xiang, Rong
- New search for: Zhang, Shu‐Bing
- New search for: Liu, Yu‐Xing
- New search for: Fan, Liang‐Liang
- New search for: Huang, Hao
- New search for: Li, Jing‐Jing
- New search for: Jin, Jie‐Yuan
- New search for: Xiang, Rong
In:
Annals of Human Genetics
;
83
, 2
;
95-99
;
2019
- Article (Journal) / Electronic Resource
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Title:A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy
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Contributors:Zhang, Shu‐Bing ( author ) / Liu, Yu‐Xing ( author ) / Fan, Liang‐Liang ( author ) / Huang, Hao ( author ) / Li, Jing‐Jing ( author ) / Jin, Jie‐Yuan ( author ) / Xiang, Rong ( author )
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Published in:Annals of Human Genetics ; 83, 2 ; 95-99
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Publisher:
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Publication date:2019-03-01
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Size:5 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:
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Source:
Table of contents – Volume 83, Issue 2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 73
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DYNC1H1 gene methylation correlates with severity of spinal muscular atrophyMaretina, Marianna / Egorova, Anna / Baranov, Vladislav / Kiselev, Anton et al. | 2019
- 82
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Genetic variations and population data on five supplementary STR markers in LebanonEl Andari, Ansar / Mourad, Lama / Mansour, Issam et al. | 2019
- 86
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Expression patterns common and unique to ulcerative colitis and celiac diseaseMedrano, Luz María / Pascual, Virginia / Bodas, Andrés / López‐Palacios, Natalia / Salazar, Isabel / Espino‐Paisán, Laura / González‐Pérez, Beatriz / Urcelay, Elena / Mendoza, Juan Luis / Núñez, Concepción et al. | 2019
- 95
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A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathyZhang, Shu‐Bing / Liu, Yu‐Xing / Fan, Liang‐Liang / Huang, Hao / Li, Jing‐Jing / Jin, Jie‐Yuan / Xiang, Rong et al. | 2019
- 100
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Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndromeAlesi, Viola / Dentici, Maria Lisa / Loddo, Sara / Genovese, Silvia / Orlando, Valeria / Calacci, Chiara / Pompili, Daniele / Dallapiccola, Bruno / Digilio, Maria Cristina / Novelli, Antonio et al. | 2019
- 110
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IL8 and IL17A polymorphisms associated with multibacillary leprosy and reaction type 1 in a mixed population from southern BrazilAquino, Julimary Suematsu / Ambrosio‐Albuquerque, Eliane Papa / Alves, Hugo Vicentin / Macedo, Luciana Conci / Visentainer, Lorena / Sell, Ana Maria / Visentainer, Jeane Eliete Laguila et al. | 2019
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Issue Information| 2019