Academic Bibliography

Search 200 years of publications by Ghent University researchers.

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Your filters: cql: parent exact "BMC MEDICAL GENETICS"

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- Journal Article
- A1
- open access
Severe congenital microcephaly with AP4M1 mutation, a case report

Sarah Duerinckx, Helene Verhelst (UGent) , Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson and Marc Abramowicz

(2017) BMC MEDICAL GENETICS. 18.
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Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

Khadim Shah, Raja Hussain Ali, Muhammad Ansar, Kwanghyuk Lee, Muhammad Salman Chishti, Izoduwa Abbe, Biao Li, Joshua D Smith, Deborah A Nickerson, Jay Shendure, et al.

(2016) BMC MEDICAL GENETICS. 17.
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Single nucleotide polymorphisms in thymic stromal lymphopoietin gene are not associated with allergic rhinitis susceptibility in Chinese subjects

Yuan Zhang, Xiaohong Song, Yanming Zhao, Luo Zhang and Claus Bachert (UGent)

(2012) BMC MEDICAL GENETICS. 13.
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Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

Björn Menten (UGent) , Katrien Swerts (UGent) , BARBARA DELLE CHIAIE (UGent) , Sandra Janssens (UGent) , Karen Buysse (UGent) , Jan Philippé (UGent) and Franki Speleman (UGent)

(2009) BMC MEDICAL GENETICS. 10.