A case of cohesinopathy with a novel de-novo SMC1A splice site mutation

Hansen, Jörg; Mohr, Julia; Bürki, Sarah Elisabeth; Lemke, Johannes (2013). A case of cohesinopathy with a novel de-novo SMC1A splice site mutation. Clinical Dysmorphology, 22(4), pp. 143-145. 10.1097/MCD.0b013e3283645439

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Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Neuropaediatrics

UniBE Contributor:

Bürki, Sarah Elisabeth and Lemke, Johannes

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0962-8827

Language:

English

Submitter:

Johannes Lemke

Date Deposited:

11 Mar 2014 09:51

Last Modified:

03 Jul 2014 09:23

Publisher DOI:

10.1097/MCD.0b013e3283645439

PubMed ID:

23863341

URI:

https://boris.unibe.ch/id/eprint/41868

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