Your search returned 2 results.

Results
	1.	Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. [electronic resource] by Vasileiou, Georgia Vergarajauregui, Silvia Endele, Sabine Popp, Bernt Büttner, Christian Ekici, Arif B Gerard, Marion Bramswig, Nuria C Albrecht, Beate Clayton-Smith, Jill Morton, Jenny Tomkins, Susan Low, Karen Weber, Astrid Wenzel, Maren Altmüller, Janine Li, Yun Wollnik, Bernd Hoganson, George Plona, Maria-Renée Cho, Megan T Thiel, Christian T Lüdecke, Hermann-Josef Strom, Tim M Calpena, Eduardo Wilkie, Andrew O M Wieczorek, Dagmar Engel, Felix B Reis, André Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. [electronic resource] by Peng, Yanyan Shinde, Deepali N Valencia, C Alexander Mo, Jun-Song Rosenfeld, Jill Truitt Cho, Megan Chamberlin, Adam Li, Zhuo Liu, Jie Gui, Baoheng Brockhage, Rachel Basinger, Alice Alvarez-Leon, Brenda Heydemann, Peter Magoulas, Pilar L Lewis, Andrea M Scaglia, Fernando Gril, Solange Chong, Shuk Ching Bower, Matthew Monaghan, Kristin G Willaert, Rebecca Plona, Maria-Renee Dineen, Rich Milan, Francisca Hoganson, George Powis, Zoe Helbig, Katherine L Keller-Ramey, Jennifer Harris, Belinda Anderson, Laura C Green, Torrian Sukoff Rizzo, Stacey J Kaylor, Julie Chen, Jiani Guan, Min-Xin Sellars, Elizabeth Sparagana, Steven P Gibson, James B Reinholdt, Laura G Tang, Sha Huang, Taosheng Producer: 20180720 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)