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| Issue Date | Title | Author(s) |
|---|---|---|
| 22-Feb-2019 | Case report of a child bearing a novel deleterious splicing variant in PIGT | Manson, Samantha; Castilla Vallmanya, Laura; Con, James; Andrews, P. Ian; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Kirk, E.P.; Urreizti, Roser |
| 10-Jun-2018 | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome | Urreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet Janssen, Raquel; Erçal, Derya; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 1-Sep-2020 | Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity | Matalonga Borrel, Lesley; Laurie, Steven; Papakonstantinou, Anastasios; Piscia, Davide; Mereu, Elisabetta; Bullich, Gemma; Thompson, Rachel; Horvath, Rita; Pérez Jurado, Luis; Riess, Olaf; Gut, Ivo; van Ommen, Gert Jan; Lochmüller, Hanns; Beltrán, Sergi; RD-Connect Genome-Phenome Analysis Platform and UR; Cormand Rifà, Bru; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser; Garrabou Tornos, Glòria |
| Jan-2020 | DPH1 syndrome: Two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients | Urreizti, Roser; Mayer, Klaus; Evrony, Gilad D.; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A.L.; Plasencia, Guillem; Gelb, Bruce D.; Grinberg Vaisman, Daniel Raúl; Brinkmann, Ulrich; Webb, Bryn D.; Balcells Comas, Susana |
| Jan-2020 | Extending the phenotypic spectrum of Bohring-Opitz syndrome: mild case confirmed by functional studies | Leon, Eyby; Diaz, Jullianne; Castilla-Vallmanya, Laura; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Urreizti, Roser |
| 2018 | Estudios funcionales de variantes de DKK1 presentes en la población general | Martínez-Gil, Núria; Roca Ayats, Neus; Vilardell, M.; Civit Vives, Sergi; Urreizti, Roser; Garcia Giralt, Natàlia; Mellibovsky, Leonardo; Nogués Solán, Xavier; Díez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 10-Feb-2020 | Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum | Urreizti, Roser; López-Martin, Estrella; Martínez-Monseny, Antonio; Pujadas, Montse; Castilla-Vallmanya, Laura; Pérez-Jurado, Luis Alberto; Serrano, Mercedes; Natera de Benito, Daniel; Martínez-Delgado, Beatriz; Posada-de-la-Paz, Manuel; Alonso, Javier; Marin-Reina, Purificación; O'Callaghan, Mar; Grinberg Vaisman, Daniel Raúl; Bermejo-Sánchez, Eva; Balcells Comas, Susana |
| 2-Mar-2019 | C syndrome - what do we know and what could the future hold? | Urreizti, Roser; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 4-May-2017 | GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates | Roca Ayats, Neus; Balcells Comas, Susana; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Martinez-Gil, Nuria; Abril Ferrando, Josep Francesc, 1970-; Urreizti, Roser; Dopazo, Joaquin; Quesada Gómez, José Manuel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Prieto-Alhambra, Daniel; Dunford, James E.; Javaid, Muhammad K.; Russell, R. Graham; Grinberg Vaisman, Daniel Raúl; Diez Pérez, Adolfo |
| 7-May-2020 | Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 | Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clémantine; Rabionet Janssen, Raquel; Blanco-Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antoine J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl; Urreizti, Roser |
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