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Issue Date	Title	Author(s)	Type
2013	Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome	Sousa, SB; Jenkins, D; Chanudet, E; Tasseva, G; Ishida, M; Anderson, G; Docker, J; Ryten, M; Sá, J; Saraiva, JM; Barnicoat, A; Scott, R; Calder, A; Wattanasirichaigoon, D; Chrzanowska, K; Simandlová, M; Van Maldergem, L; Stanier, P; Beales, PL; Vance, JE; Moore, GE	article
Jan-2014	Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters	Sousa, SB; Ramos, F; Garcia, P; Pais, RP; Paiva, C; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RC	article
2013	Intellectual disability, unusual facial morphology and hand anomalies in sibs	Sousa, SB; Venâncio, M; Chanudet, E; Palmer, R; Ramos, L; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RC	article