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	1.	Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. [electronic resource] by Edvardson, Simon Nicolae, Claudia M Noh, Grace J Burton, Jennifer E Punzi, Giuseppe Shaag, Avraham Bischetsrieder, Jessica De Grassi, Anna Pierri, Ciro Leonardo Elpeleg, Orly Moldovan, George-Lucian Producer: 20191104 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. [electronic resource] by Ng, Bobby G Sosicka, Paulina Agadi, Satish Almannai, Mohammed Bacino, Carlos A Barone, Rita Botto, Lorenzo D Burton, Jennifer E Carlston, Colleen Chung, Brian Hon-Yin Cohen, Julie S Coman, David Dipple, Katrina M Dorrani, Naghmeh Dobyns, William B Elias, Abdallah F Epstein, Leon Gahl, William A Garozzo, Domenico Hammer, Trine Bjørg Haven, Jaclyn Héron, Delphine Herzog, Matthew Hoganson, George E Hunter, Jesse M Jain, Mahim Juusola, Jane Lakhani, Shenela Lee, Hane Lee, Joy Lewis, Katherine Longo, Nicola Lourenço, Charles Marques Mak, Christopher C Y McKnight, Dianalee Mendelsohn, Bryce A Mignot, Cyril Mirzaa, Ghayda Mitchell, Wendy Muhle, Hiltrud Nelson, Stanley F Olczak, Mariusz Palmer, Christina G S Partikian, Arthur Patterson, Marc C Pierson, Tyler M Quinonez, Shane C Regan, Brigid M Ross, M Elizabeth Guillen Sacoto, Maria J Scaglia, Fernando Scheffer, Ingrid E Segal, Devorah Singhal, Nilika Shah Striano, Pasquale Sturiale, Luisa Symonds, Joseph D Tang, Sha Vilain, Eric Willis, Mary Wolfe, Lynne A Yang, Hui Yano, Shoji Powis, Zöe Suchy, Sharon F Rosenfeld, Jill A Edmondson, Andrew C Grunewald, Stephanie Freeze, Hudson H Producer: 20200317 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)