K Snape, S Hanks, E Ruark, P Barros-Núñez… - Nature …, 2011 - ncbi.nlm.nih.gov Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and ... - -
M Balasubramanian, LC Peres… - Clinical Dysmorphology, 2011 - journals.lww.com We report a fetus with mosaic trisomy 11 who also had bilateral renal agenesis. We describe the post-mortem examination findings in the fetus and cytogenetic analysis. There are no earlier reports of full trisomy 11, presumably because it is lethal and results in early spontaneous ... -
…, S Ardekani, S Atkins, ATM Mosaic… - Transportation …, 2011 - tran必威最新网址.journal.informs.org We wish to thank the following individuals who acted as referees for Transportation 必威最新网址ence in 2010. We express our apologies to those whose names we may have missed. ... Abkowitz, Mark, Vanderbilt University Abou-Zeid, Maya, American University of Beirut ...
D Skeel… - 2011 - papers.ssrn.com ... Research Paper No. 11-25 The Mosaic Law in Christian Perspective David Skeel UNIVERSITY OF PENNSYLVANIA ... Page 2. Electronic copy available at: http://ssrn.com/abstract=1903928 1 The Mosaic Law in Christian Perspective David Skeel & Tremper Longman Introduction ...
X Ye, Y Wang, A Rattner… - Development, 2011 - dev.biologists.org The developing mammalian kidney is an attractive system in which to study the control of organ growth. Targeted mutations in the Wnt receptors frizzled (Fz) 4 and Fz8 lead to reduced ureteric bud growth and a reduction in kidney size, a phenotype previously reported for loss of ... - -
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