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	1.	Arena syndrome is caused by a missense mutation in PLP1. [electronic resource] by Stevenson, Roger E Tarpey, Patrick May, Melanie M Stratton, Michael R Schwartz, Charles E Producer: 20090618 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations. [electronic resource] by Marble, Michael Voeller, Kytja S May, Melanie M Stevenson, Roger E Schwartz, Charles E Simensen, Richard J Producer: 20070928 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. [electronic resource] by Holden, Kenton R Zuñiga, Oscar F May, Melanie M Su, Humberto Molinero, Marco R Rogers, R Curtis Schwartz, Charles E Producer: 20060224 In: Journal of child neurology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism. [electronic resource] by Long, Philip May, Melanie M James, Victoria M Grannò, Simone Johnson, John P Tarpey, Patrick Stevenson, Roger E Harvey, Kirsten Schwartz, Charles E Harvey, Robert J Producer: 20160202 In: Frontiers in molecular neuroscience vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. [electronic resource] by Srivastava, Siddharth Niranjan, Tejasvi May, Melanie M Tarpey, Patrick Allen, William Hackett, Anna Jouk, Pierre-Simon Raymond, Lucy Briault, Slyvain Skinner, Cindy Toutain, Annick Gecz, Jozef Heath, William Stevenson, Roger E Schwartz, Charles E Wang, Tao Producer: 20190521 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)
	6.	Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. [electronic resource] by Schwartz, Charles E May, Melanie M Carpenter, Nancy J Rogers, R Curtis Martin, Judith Bialer, Martin G Ward, Jewell Sanabria, Javier Marsa, Silvana Lewis, James A Echeverri, Roberto Lubs, Herbert A Voeller, Kytja Simensen, Richard J Stevenson, Roger E Producer: 20050829 In: American journal of human genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. [electronic resource] by Schwartz, Charles E Tarpey, Patrick S Lubs, Herbert A Verloes, Alain May, Melanie M Risheg, Hiba Friez, Michael J Futreal, P Andrew Edkins, Sarah Teague, Jon Briault, Sylvain Skinner, Cindy Bauer-Carlin, Astrid Simensen, Richard J Joseph, Sumy M Jones, Julie R Gecz, Josef Stratton, Michael R Raymond, F Lucy Stevenson, Roger E Producer: 20080306 In: Journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)