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	1.	Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. [electronic resource] by Bowden, Sasigarn A Cozzi, Corin Hickey, Scott E Thrush, Devon Lamb Astbury, Caroline Nuthakki, Sushma Producer: 20140123 In: Case reports in endocrinology vol. 2013 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion. [electronic resource] by Hickey, Scott E Biswas, Sawona Thrush, Devon Lamb Pyatt, Robert E Gastier-Foster, Julie M Astbury, Caroline Atkin, Joan Producer: 20140325 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Variability in pathogenicity prediction programs: impact on clinical diagnostics. [electronic resource] by Walters-Sen, Lauren C Hashimoto, Sayaka Thrush, Devon Lamb Reshmi, Shalini Gastier-Foster, Julie M Astbury, Caroline Pyatt, Robert E Producer: 20150324 In: Molecular genetics & genomic medicine vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation. [electronic resource] by Hickey, Scott E Thrush, Devon Lamb Walters-Sen, Lauren Reshmi, Shalini C Astbury, Caroline Gastier-Foster, Julie M Atkin, Joan Producer: 20140325 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. [electronic resource] by Walters-Sen, Lauren C Thrush, Devon Lamb Hickey, Scott E Hashimoto, Sayaka Reshmi, Shalini Gastier-Foster, Julie M Pyatt, Robert E Astbury, Caroline Producer: 20150127 In: European journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. [electronic resource] by Pfau, Ruthann B Thrush, Devon Lamb Hamelberg, Elizabeth Bartholomew, Dennis Botes, Shaun Pastore, Matthew Tan, Christopher del Gaudio, Daniela Gastier-Foster, Julie M Astbury, Caroline Producer: 20140624 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	12q14 microdeletion associated with HMGA2 gene disruption and growth restriction. [electronic resource] by Alyaqoub, Fadel Pyatt, Robert E Bailes, Andrea Brock, Amanda Deeg, Carol McKinney, Aimee Astbury, Caroline Reshmi, Shalini Shane, Kate P Thrush, Devon Lamb Sommer, Annemarie Gastier-Foster, Julie M Producer: 20130621 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients. [electronic resource] by Repnikova, Elena A Astbury, Caroline Reshmi, Shalini C Ramsey, Sarah N Atkin, Joan F Thrush, Devon Lamb Mitchell, Anna L Pyatt, Robert E Reber, Kristina Slavin, Thomas Gastier-Foster, Julie M Producer: 20121105 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization. [electronic resource] by Cottrell, Catherine E Prior, Thomas W Pyatt, Robert Astbury, Caroline Reshmi, Shalini Bartholomew, Dennis Atkin, Joan Manickam, Kandamurugu Thrush, Devon Lamb Pastore, Matthew Mendell, Jerry Tsao, Chang-Yong Al-Dahhak, Roula Newmeyer, Amy Gastier-Foster, Julie M Producer: 20101215 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. [electronic resource] by Ballif, Blake C Theisen, Aaron Rosenfeld, Jill A Traylor, Ryan N Gastier-Foster, Julie Thrush, Devon Lamb Astbury, Caroline Bartholomew, Dennis McBride, Kim L Pyatt, Robert E Shane, Kate Smith, Wendy E Banks, Valerie Gallentine, William B Brock, Pamela Rudd, M Katharine Adam, Margaret P Keene, Julia A Phillips, John A Pfotenhauer, Jean P Gowans, Gordon C Stankiewicz, Pawel Bejjani, Bassem A Shaffer, Lisa G Producer: 20100415 In: American journal of human genetics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. [electronic resource] by Talkowski, Michael E Mullegama, Sureni V Rosenfeld, Jill A van Bon, Bregje W M Shen, Yiping Repnikova, Elena A Gastier-Foster, Julie Thrush, Devon Lamb Kathiresan, Sekar Ruderfer, Douglas M Chiang, Colby Hanscom, Carrie Ernst, Carl Lindgren, Amelia M Morton, Cynthia C An, Yu Astbury, Caroline Brueton, Louise A Lichtenbelt, Klaske D Ades, Lesley C Fichera, Marco Romano, Corrado Innis, Jeffrey W Williams, Charles A Bartholomew, Dennis Van Allen, Margot I Parikh, Aditi Zhang, Lilei Wu, Bai-Lin Pyatt, Robert E Schwartz, Stuart Shaffer, Lisa G de Vries, Bert B A Gusella, James F Elsea, Sarah H Producer: 20111212 In: American journal of human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. [electronic resource] by Beunders, Gea Voorhoeve, Els Golzio, Christelle Pardo, Luba M Rosenfeld, Jill A Talkowski, Michael E Simonic, Ingrid Lionel, Anath C Vergult, Sarah Pyatt, Robert E van de Kamp, Jiddeke Nieuwint, Aggie Weiss, Marjan M Rizzu, Patrizia Verwer, Lucilla E N I van Spaendonk, Rosalina M L Shen, Yiping Wu, Bai-lin Yu, Tingting Yu, Yongguo Chiang, Colby Gusella, James F Lindgren, Amelia M Morton, Cynthia C van Binsbergen, Ellen Bulk, Saskia van Rossem, Els Vanakker, Olivier Armstrong, Ruth Park, Soo-Mi Greenhalgh, Lynn Maye, Una Neill, Nicholas J Abbott, Kristin M Sell, Susan Ladda, Roger Farber, Darren M Bader, Patricia I Cushing, Tom Drautz, Joanne M Konczal, Laura Nash, Patricia de Los Reyes, Emily Carter, Melissa T Hopkins, Elizabeth Marshall, Christian R Osborne, Lucy R Gripp, Karen W Thrush, Devon Lamb Hashimoto, Sayaka Gastier-Foster, Julie M Astbury, Caroline Ylstra, Bauke Meijers-Heijboer, Hanne Posthuma, Danielle Menten, Björn Mortier, Geert Scherer, Stephen W Eichler, Evan E Girirajan, Santhosh Katsanis, Nicholas Groffen, Alexander J Sistermans, Erik A Producer: 20130404 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)