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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Am J Hum Genet. 2020 May 7;106(5):623-631. doi: 10.1016/j.ajhg.2020.03.009. Epub 2020 Apr 9.
Am J Hum Genet. 2020.
PMID: 32275884
Free PMC article.
New mutations in APOB100 involved in familial hypobetalipoproteinemia.
Brusgaard K, Kjaersgaard L, Hansen AB, Husby S.
Brusgaard K, et al. Among authors: kjaersgaard l.
J Clin Lipidol. 2010 May-Jun;4(3):181-4. doi: 10.1016/j.jacl.2010.02.009. Epub 2010 Mar 2.
J Clin Lipidol. 2010.
PMID: 21122650
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Watertight dural closure in brain surgery: a simple model for training.
Matula C, Kjærsgaard L, Di Ieva A.
Matula C, et al. Among authors: kjaersgaard l.
J Neurol Surg A Cent Eur Neurosurg. 2014 May;75(3):241-5. doi: 10.1055/s-0033-1342928. Epub 2013 May 16.
J Neurol Surg A Cent Eur Neurosurg. 2014.
PMID: 23681920
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