Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Edgar Gerotina"'
Autor:
Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/8843af3e508f46809b9ffcd7f84bf86f
Autor:
Silvia Vidal, Ainhoa Pascual‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Rett syndrome (RTT) is a developmental disorder with an early onset and X‐linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. T
Externí odkaz:
https://doaj.org/article/1c84a3c1e8154de99ac1fb8e067727f2
Autor:
Nuria Brandi, Angels García-Cazorla, Jean-Rémi Trotta, Maria del Mar O’Callaghan, Sophia Derdak, Mercè Pineda, Laura Blasco, Edgar Gerotina, Judith Armstrong, Silvia Vidal, Paola Pacheco
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Scientific Reports
Scientific Reports
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a79089d16b9b519b52b284effe4387a5
https://doi.org/10.1038/s41598-021-97262-y
https://doi.org/10.1038/s41598-021-97262-y
Autor:
Marc Rabaza‐Gairí, Ainhoa Pascual-Alonso, Nuria Brandi, Mercè Pineda, Edgar Gerotina, Judith Armstrong, Silvia Vidal, Paola Pacheco, Clara Xiol
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Background Rett syndrome (RTT) is a developmental disorder with an early onset and X‐linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758cdf214a4880514a013b4580e4f171
https://doi.org/10.1002/mgg3.793
https://doi.org/10.1002/mgg3.793