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American Journal of Medical Genetics. Part A|May 20, 2011
A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemiaPhilip D Pallister, Adam B Pallister, Sarah South, et al.American Journal of Medical Genetics. Part A|May 8, 2013
Elements of morphology: standard terminology for the external genitaliaRaoul C M Hennekam, Judith E Allanson, Leslie G Biesecker, et al.American Journal of Medical Genetics. Part A|December 15, 2006
Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, GermanyLuminita Göbbel, Rüdiger Schultka, Rudyard Klunker, et al.American Journal of Medical Genetics. Part A|July 29, 2003
Sirenomelia sequence according to the distance between the first sacral vertebra and the iliaKlaus W Kjaer, Jean W Keeling, John M Opitz, et al.American Journal of Medical Genetics. Part A|October 14, 2005
A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansionsKlaus W Kjaer, Lars Hansen, Hans Eiberg, et al.Cell Reports|October 27, 2016
MEK Inhibitors Reverse Growth of Embryonal Brain Tumors Derived from Oligoneural Precursor CellsKatarzyna Modzelewska, Elena F Boer, Timothy L Mosbruger, et al.American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.American Journal of Medical Genetics|July 13, 2002
HOXD13 polyalanine tract expansion in classical synpolydactyly type VordingborgKlaus Wilbrandt Kjaer, Jess Hedeboe, Merete Bugge, et al.American Journal of Medical Genetics|September 20, 2002
FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]Sabine Dessay, Marie Pierre Moizard, Jean Louis Gilardi, et al.Fetal and Pediatric Pathology|November 9, 2011
Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomalyLarissa V Furtado, Angelica R Putnam, David H Viskochil, et al.Pageof 11