# Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/further-delineation-of-the-kbg-syndrome-phenotype-caused-by-ankrd11-aberrations/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Charlotte W. Ockeloen,Marjolein H. Willemsen,Sonja de Munnik,Bregje W.M. van Bon,Nicole de Leeuw,Aad Verrips,Sarina G. Kant,Elizabeth A. Jones,Han G. Brunner,Rosa Laura E. van Loon,Eric Smeets,Mieke M van Haelst,Gijs van Haaften,Ann Nordgren,Helena Malmgren,Giedré Grigelioniené,Sascha Vermeer,Pedro Louro,Lina Ramos,Thomas J. J. Maal,Celeste C. van Heumen,Helger G. Yntema,Carine Carels,Tjitske Kleefstra |
| Citations | 104 |
| DOI | 10.1038/ejhg.2014.253 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/ejhg2014253.pdf |
| OpenAlex ID | https://openalex.org/W2070978649 |
| PMID | 25424714 |
| Type | article |
| Year | 2014 |

## Paper authors

- [Thomas J. J. Maal](https://scholariq.org/researchers/thomas-j-j-maal/)

## Paper journal

- [European Journal of Human Genetics](https://scholariq.org/journals/european-journal-of-human-genetics/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.