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	1.	Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. [electronic resource] by McCarthy, John M McCann-Crosby, Bonnie M Rech, Megan E Yin, Jiani Chen, Chun-An Ali, May A Nguyen, HaiThuy N Miller, Jennifer L Schaaf, Christian P Producer: 20190923 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. [electronic resource] by Rech, Megan E McCarthy, John M Chen, Chun-An Edmond, Jane C Shah, Veeral S Bosch, Daniëlle G M Berry, Gerard T Williams, Linford Madan-Khetarpal, Suneeta Niyazov, Dmitriy Shaw-Smith, Charles Kovar, Erin M Lupo, Philip J Schaaf, Christian P Producer: 20210128 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. [electronic resource] by Fountain, Michael D Oleson, David S Rech, Megan E Segebrecht, Lara Hunter, Jill V McCarthy, John M Lupo, Philip J Holtgrewe, Manuel Moran, Rocio Rosenfeld, Jill A Isidor, Bertrand Le Caignec, Cédric Saenz, Margarita S Pedersen, Robert C Morgan, Thomas M Pfotenhauer, Jean P Xia, Fan Bi, Weimin Kang, Sung-Hae L Patel, Ankita Krantz, Ian D Raible, Sarah E Smith, Wendy Cristian, Ingrid Torti, Erin Juusola, Jane Millan, Francisca Wentzensen, Ingrid M Person, Richard E Küry, Sébastien Bézieau, Stéphane Uguen, Kévin Férec, Claude Munnich, Arnold van Haelst, Mieke Lichtenbelt, Klaske D van Gassen, Koen Hagelstrom, Tanner Chawla, Aditi Perry, Denise L Taft, Ryan J Jones, Marilyn Masser-Frye, Diane Dyment, David Venkateswaran, Sunita Li, Chumei Escobar, Luis F Horn, Denise Spillmann, Rebecca C Peña, Loren Wierzba, Jolanta Strom, Tim M Parenti, Ilaria Kaiser, Frank J Ehmke, Nadja Schaaf, Christian P Producer: 20200206 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)