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	1.	Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome). [electronic resource] by Kuo, Caroline Y Signer, Rebecca Saitta, Sulagna C Producer: 20190903 In: Current allergy and asthma reports vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. [electronic resource] by Mullegama, Sureni V Klein, Steven D Signer, Rebecca H Vilain, Eric Martinez-Agosto, Julian A Producer: 20190411 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. [electronic resource] by Macnamara, Ellen F Schoch, Kelly Glanton, Emily Fieg, Elizabeth Brokamp, Elly Signer, Rebecca LeBlanc, Kimberly McConkie-Rosell, Allyn Palmer, Christina G S Producer: 20200427 In: Journal of genetic counseling vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. [electronic resource] by Woods, Jeremy D Khanlou, Negar Lee, Hane Signer, Rebecca Shieh, Perry Chen, Johnathan Herzog, Matthew Palmer, Christina Martinez-Agosto, Julian Nelson, Stanley F Producer: 20210401 In: Neuropathology : official journal of the Japanese Society of Neuropathology vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? [electronic resource] by Mullegama, Sureni V Klein, Steven D Nguyen, Dzung C Kim, Arang Signer, Rebecca Fox, Michelle Dorrani, Naghmeh Hendershot, Andrea Mardach, Rebecca Suddath, Robert Dipple, Katrina Vilain, Eric Wong, Derek A Deignan, Joshua L D Cederbaum, Stephen Grody, Wayne W Martinez-Agosto, Julian A Producer: 20180605 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. [electronic resource] by Deisseroth, Cole A Birgmeier, Johannes Bodle, Ethan E Kohler, Jennefer N Matalon, Dena R Nazarenko, Yelena Genetti, Casie A Brownstein, Catherine A Schmitz-Abe, Klaus Schoch, Kelly Cope, Heidi Signer, Rebecca Martinez-Agosto, Julian A Shashi, Vandana Beggs, Alan H Wheeler, Matthew T Bernstein, Jonathan A Bejerano, Gill Producer: 20200128 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Phenotype delineation of ZNF462 related syndrome. [electronic resource] by Kruszka, Paul Hu, Tommy Hong, Sungkook Signer, Rebecca Cogné, Benjamin Isidor, Betrand Mazzola, Sarah E Giltay, Jacques C van Gassen, Koen L I England, Eleina M Pais, Lynn Ockeloen, Charlotte W Sanchez-Lara, Pedro A Kinning, Esther Adams, Darius J Treat, Kayla Torres-Martinez, Wilfredo Bedeschi, Maria F Iascone, Maria Blaney, Stephanie Bell, Oliver Tan, Tiong Y Delrue, Marie-Ange Jurgens, Julie Barry, Brenda J Engle, Elizabeth C Savage, Sarah K Fleischer, Nicole Martinez-Agosto, Julian A Boycott, Kym Zackai, Elaine H Muenke, Maximilian Producer: 20200803 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. [electronic resource] by Lee, Hane Huang, Alden Y Wang, Lee-Kai Yoon, Amanda J Renteria, Genecee Eskin, Ascia Signer, Rebecca H Dorrani, Naghmeh Nieves-Rodriguez, Shirley Wan, Jijun Douine, Emilie D Woods, Jeremy D Dell'Angelica, Esteban C Fogel, Brent L Martin, Martin G Butte, Manish J Parker, Neil H Wang, Richard T Shieh, Perry B Wong, Derek A Gallant, Natalie Singh, Kathryn E Tavyev Asher, Y Jane Sinsheimer, Janet S Krakow, Deborah Loo, Sandra K Allard, Patrick Papp, Jeanette C Palmer, Christina G S Martinez-Agosto, Julian A Nelson, Stanley F Producer: 20210203 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)