Your search returned 9 results.

Results
	1.	Facial recognition software in clinical dysmorphology. [electronic resource] by Hurst, Anna C E Producer: 20190730 In: Current opinion in pediatrics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Dysmorphology in the Era of Genomic Diagnosis. [electronic resource] by Hurst, Anna C E Robin, Nathaniel H Publication details: Journal of personalized medicine Mar 2020 In: Journal of personalized medicine vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy. [electronic resource] by Ashraf, Ambika P Hurst, Anna C E Garg, Abhimanyu Producer: 20171226 In: Journal of clinical lipidology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Editorial: Neonatal management of achondroplasia: one hospital's geosocial approach to improve patient outcomes. [electronic resource] by Gooch, Catherine Robin, Nathaniel H Hurst, Anna C E Producer: 20200420 In: Current opinion in pediatrics vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Foramen magnum compression in Coffin-Lowry syndrome: A case report. [electronic resource] by Upadia, Jariya Oakes, Jerry Hamm, Austin Hurst, Anna C E Robin, Nathaniel H Producer: 20171030 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report. [electronic resource] by Kerr, Elizabeth R Stuhlmiller, Gary M Maha, George C Ladd, Mark A Mikhail, Fady M Koester, Ruth P Hurst, Anna C E Publication details: Molecular cytogenetics 2018 In: Molecular cytogenetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. [electronic resource] by Liang, Lina Li, Xia Moutton, Sébastien Schrier Vergano, Samantha A Cogné, Benjamin Saint-Martin, Anne Hurst, Anna C E Hu, Yushuang Bodamer, Olaf Thevenon, Julien Hung, Christina Y Isidor, Bertrand Gerard, Bénédicte Rega, Adelaide Nambot, Sophie Lehalle, Daphné Duffourd, Yannis Thauvin-Robinet, Christel Faivre, Laurence Bézieau, Stéphane Dure, Leon S Helbling, Daniel C Bick, David Xu, Chengqi Chen, Qiuyun Mancini, Grazia M S Vitobello, Antonio Wang, Qing Kenneth Producer: 20200309 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. [electronic resource] by Hiatt, Susan M Neu, Matthew B Ramaker, Ryne C Hardigan, Andrew A Prokop, Jeremy W Hancarova, Miroslava Prchalova, Darina Havlovicova, Marketa Prchal, Jan Stranecky, Viktor Yim, Dwight K C Powis, Zöe Keren, Boris Nava, Caroline Mignot, Cyril Rio, Marlene Revah-Politi, Anya Hemati, Parisa Stong, Nicholas Iglesias, Alejandro D Suchy, Sharon F Willaert, Rebecca Wentzensen, Ingrid M Wheeler, Patricia G Brick, Lauren Kozenko, Mariya Hurst, Anna C E Wheless, James W Lacassie, Yves Myers, Richard M Barsh, Gregory S Sedlacek, Zdenek Cooper, Gregory M Producer: 20190208 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. [electronic resource] by Assia Batzir, Nurit Kishor Bhagwat, Pranjali Larson, Austin Coban Akdemir, Zeynep Bagłaj, Maciej Bofferding, Leon Bosanko, Katherine B Bouassida, Skander Callewaert, Bert Cannon, Ashley Enchautegui Colon, Yazmin Garnica, Adolfo D Harr, Margaret H Heck, Sandra Hurst, Anna C E Jhangiani, Shalini N Isidor, Bertrand Littlejohn, Rebecca O Liu, Pengfei Magoulas, Pilar Mar Fan, Helen Marom, Ronit McLean, Scott Nezarati, Marjan M Nugent, Kimberly M Petersen, Michael B Rocha, Maria L Roeder, Elizabeth Smigiel, Robert Tully, Ian Weisfeld-Adams, James Wells, Katerina O Posey, Jennifer E Lupski, James R Beaudet, Arthur L Wangler, Michael F Producer: 20210721 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)