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Dorit Lev

As seen in: Wiley Online Library, The American Journal of Human Genetics
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Articles by Dorit Lev

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies

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By Gabrielle Lemire, Aren E. Marshall, Jonathan Martinez Verified, Tally Lerman-Sagie, Wendy Mears, Xueqi Wang, Dorit Lev, Brad Angle, Patrick Shannon, Susan Blaser, Kym M. Boycott, Julie Richer, Karen Chong, Theodore G Drivas, David Chitayat, Tejan S. Patel, Alison J. Eaton, Kelly Bontempo
| The American Journal of Human Genetics Verified
Keywords CDK20 CCRK ciliopathy Get full text access Log in, subscribe or purchase for full access. References 1. Reiter, J.F. ∙ Leroux, M.R. Genes and molecular pathways underpinning ciliopathies Nat. Rev. Mol. Cell Biol. 2017; 18:533-547 2. Turan, M.G. ∙ Orhan, M.E. ∙ Cevik, S. ... CiliaMiner: an integrated database for ciliopathy genes and ciliopathies Database. 2023; 2023, baad047 3. Mill, P.
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Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies

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By Michal Gafner, Dorit Lev, Nilly Waiserberg, Stephanie Libzon
| Wiley Online Library Verified
CMA chromosomal microarray DCC disorders of the corpus callosum FNC fetal neurology centre PVNH periventricular nodular heterotopia PVPC periventricular pseudocysts TOP termination of pregnancy WES whole-exome sequencing Parental+fetal MRI (MRI-Trio) can identify fetal brain anomalies inherited from a parent. When the MRI-Trio was concordant, counselling was more favourable than situations where it was discordant. MRI-Trio testing can enhance the accuracy of prenatal counselling.
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