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Department of Clinical Genetics
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Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
Developmental biology Oct, 2013 | Pubmed ID: 23707863
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Human molecular genetics Feb, 2016 | Pubmed ID: 26647307
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
American journal of human genetics Jul, 2017 | Pubmed ID: 28602422
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
International journal of molecular sciences Nov, 2021 | Pubmed ID: 34830235
Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
JPGN reports Nov, 2022 | Pubmed ID: 37168481
Promoter hypermethylation of neural-related genes is compatible with stemness in solid cancers.
Epigenetics & chromatin Aug, 2023 | Pubmed ID: 37537688
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Digestive diseases and sciences Oct, 2023 | Pubmed ID: 37650948
Erasmus University Medical Center - Sophia Children's Hospital
Naomi J. M. Kakiailatu1,
Laura E. Kuil1,2,
Eric Bindels3,
Joke T. M. Zink3,
Michael Vermeulen3,
Veerle Melotte4,
Maria M. Alves1
1Department of Clinical Genetics, Erasmus University Medical Center - Sophia Children's Hospital,
2Division of Psychosocial Research and Epidemiology, the Netherlands Cancer Institute,
3Department of Hematology, Erasmus Medical Center,
4Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center
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