| Issue Date | Title | Author(s) | Type | Access 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 |  |
| Jun-2018 | Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature | Sentchordi-Montané, L; Aza-Carmona, M; Benito-Sanz, S; Barreda-Bonis, AC; Sánchez-Garre, C; Prieto-Matos, P; Ruiz-Ocaña, P; Lechuga-Sancho, A; Carcavilla-Urquí, A; Mulero-Collantes, I; Martos-Moreno, GA; Del Pozo, A; Vallespín, E; Offiah, A; Parrón-Pajares, M; Dinis, I; Sousa, SB; Ros-Pérez, P; González-Casado, I; Heath, KE | 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 | |
| 6-Nov-2014 | Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome | Thomas, AC; Williams, H; Setó-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; Ishida, M; Ocaka, L; Chanudet, E; James, C; Lescai, F; Anderson, G; Morrogh, D; Ryten, M; Duncan, AJ; Pai, YJ; Saraiva, JM; Ramos, F; Farren, B; Saunders, D; Vernay, B; Gissen, P; Straatmaan-Iwanowska, A; Baas, F; Wood, NW; Hersheson, J; Houlden, H; Hurst, J; Scott, R; Bitner-Glindzicz, M; Moore, GE; Sousa, SB; Stanier, P | article | |
