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	1.	Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. [electronic resource] by Shayota, Brian J Soler-Alfonso, Claudia Bekheirnia, Mir Reza Mizerik, Elizabeth Boyer, Suzy W Xiao, Rui Yang, Yaping Elsea, Sarah H Scaglia, Fernando Producer: 20200421 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)
	2.	Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. [electronic resource] by Birjiniuk, Alona Glinton, Kevin E Villafranco, Natalie Boyer, Suzanne Laufman, Jason Mizerik, Elizabeth Scott, Daryl Elsea, Sarah H Galambos, Csaba Varghese, Nidhy P Scaglia, Fernando Producer: 20210203 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.	Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. [electronic resource] by Rossetti, Linda Z Glinton, Kevin Yuan, Bo Liu, Pengfei Pillai, Nishitha Mizerik, Elizabeth Magoulas, Pilar Rosenfeld, Jill A Karaviti, Lefkothea Sutton, Vernon R Lalani, Seema R Scott, Daryl A Producer: 20200708 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)
	4.	GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment. [electronic resource] by Markovitz, Rebecca Ghosh, Rajarshi Kuo, Molly E Hong, William Lim, Jaehyung Bernes, Saunder Manberg, Stephanie Crosby, Kathleen Tanpaiboon, Pranoot Bharucha-Goebel, Diana Bonnemann, Carsten Mohila, Carrie A Mizerik, Elizabeth Woodbury, Suzanne Bi, Weimin Lotze, Timothy Antonellis, Anthony Xiao, Rui Potocki, Lorraine Producer: 20210112 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)
	5.	Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). [electronic resource] by Assia Batzir, Nurit Posey, Jennifer E Song, Xiaofei Akdemir, Zeynep Coban Rosenfeld, Jill A Brown, Chester W Chen, Emily Holtrop, Shannon G Mizerik, Elizabeth Nieto Moreno, Margarita Payne, Katelyn Raas-Rothschild, Annick Scott, Richard Vernon, Hilary J Zadeh, Neda Lupski, James R Sutton, V Reid Producer: 20201228 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)