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	1.	Lysosomal storage diseases. [electronic resource] by Manwaring, Linda P Jamerson, Patricia A Slaugh, Rachel Producer: 20081110 In: RN vol. 71 Availability: No items available. Save to lists Add to cart (remove)
	2.	Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. [electronic resource] by Martin, Rick A Slaugh, Rachel Natowicz, Marvin Pearlman, Kayla Orvisky, Eduard Krasnewich, Donna Kleta, Robert Huizing, Marjan Gahl, William A Producer: 20040210 In: American journal of medical genetics. Part A vol. 120A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. [electronic resource] by Singh, Sakshi Gupta, Aditi Zech, Michael Sigafoos, Ashley N Clark, Karl J Dincer, Yasemin Wagner, Matias Humberson, Jennifer B Green, Sarah van Gassen, Koen Brandt, Tracy Schnur, Rhonda E Millan, Francisca Si, Yue Mall, Volker Winkelmann, Juliane Gavrilova, Ralitza H Klee, Eric W Engleman, Kendra Safina, Nicole P Slaugh, Rachel Bryant, Emily M Tan, Wen-Hann Granadillo, Jorge Misra, Sunita N Schaefer, G Bradley Towner, Shelley Brilstra, Eva H Koeleman, Bobby P C Producer: 20210427 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)
	4.	Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. [electronic resource] by Tarpey, Patrick S Raymond, F Lucy O'Meara, Sarah Edkins, Sarah Teague, Jon Butler, Adam Dicks, Ed Stevens, Claire Tofts, Calli Avis, Tim Barthorpe, Syd Buck, Gemma Cole, Jennifer Gray, Kristian Halliday, Kelly Harrison, Rachel Hills, Katy Jenkinson, Andrew Jones, David Menzies, Andrew Mironenko, Tatiana Perry, Janet Raine, Keiran Richardson, David Shepherd, Rebecca Small, Alexandra Varian, Jennifer West, Sofie Widaa, Sara Mallya, Uma Moon, Jenny Luo, Ying Holder, Susan Smithson, Sarah F Hurst, Jane A Clayton-Smith, Jill Kerr, Bronwyn Boyle, Jackie Shaw, Marie Vandeleur, Lucianne Rodriguez, Jayson Slaugh, Rachel Easton, Douglas F Wooster, Richard Bobrow, Martin Srivastava, Anand K Stevenson, Roger E Schwartz, Charles E Turner, Gillian Gecz, Jozef Futreal, P Andrew Stratton, Michael R Partington, Michael Producer: 20070313 In: American journal of human genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)