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Items: 3

1.
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome
Linda M. Reis, Elena A. Sorokina, Samuel Thompson, Sanaa Muheisen, Milen Velinov, Carlos Zamora, Arthur S. Aylsworth, Elena V. Semina
Am J Hum Genet. 2019 Aug 1; 105(2): 425–433. Published online 2019 Jul 18. doi: 10.1016/j.ajhg.2019.06.015
PMCID:
PMC6698968
AbstractArticlePDF–2.2M
2.
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome
Kristin E. Noack Watt, Annita Achilleos, Cynthia L. Neben, Amy E. Merrill, Paul A. Trainor
PLoS Genet. 2016 Jul; 12(7): e1006187. Published online 2016 Jul 22. doi: 10.1371/journal.pgen.1006187
PMCID:
PMC4957770
AbstractArticlePDF–37M
3.
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis
Francesca Mari, Pia Hermanns, Maria L Giovannucci-Uzielli, Fiorella Galluzzi, Daryl Scott, Brendan Lee, Alessandra Renieri, Sheila Unger, Bernhard Zabel, Andrea Superti-Furga
Eur J Hum Genet. 2009 Sep; 17(9): 1141–1147. Published online 2009 Mar 11. doi: 10.1038/ejhg.2009.27
PMCID:
PMC2986596
AbstractArticlePDF–286K

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