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TITLE: Identification of novel genetic causes of Rett syndrome-like phenotypes
AUTHORS: Fatima Lopes; Mafalda Barbosa; Adam Ameur; Gabriela Soares; Joaquim de Sa; Ana Isabel Dias; Guiomar Oliveira; Pedro Cabral; Teresa Temudo; Eulalia Calado; Isabel Fineza Cruz; Jose Pedro Vieira; Renata Oliveira; Sofia Esteves; Sascha Sauer; Inger Jonasson; Ann Christine Syvanen; Ulf Gyllensten; Dalila Pinto; Patricia Maciel;
PUBLISHED: 2016, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 53, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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TITLE: Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing  Full Text
AUTHORS: Pedro G Ferreira ; Martin Oti; Matthias Barann; Thomas Wieland; Suzana Ezquina; Marc R Friedländer; Manuel A Rivas; Anna Esteve-Codina; Xavier Estivill; Roderic Guigó; Emmanouil Dermitzakis; Stylianos Antonarakis; Thomas Meitinger; Tim M Strom; Aarno Palotie; Jean François Deleuze; Ralf Sudbrak; Hans Lerach; Ivo Gut; Ann-Christine Syvänen; Ulf Gyllensten; Stefan Schreiber; Philip Rosenstiel; Han Brunner; Joris Veltman; Peter A.C.T Hoen; Gert Jan van Ommen; Angel Carracedo; Alvis Brazma; Paul Flicek; Anne Cambon-Thomsen; Jonathan Mangion; David Bentley; Ada Hamosh; Philip Rosenstiel; Tim M Strom; Tuuli Lappalainen; Roderic Guigó; Michael Sammeth; ...More
PUBLISHED: 2016, SOURCE: SCIENTIFIC REPORTS, VOLUME: 6
INDEXED IN: Scopus WOS CrossRef: 23
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TITLE: Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing  Full Text
AUTHORS: Fatima Lopes; Mafalda Barbosa; Teresa Temudo; Joaquim de Sa; Ana Isabel Dias; Guiomar Oliveira; Pedro Cabra; Eulalia Calado; Isabel Fineza Cruz; Gabriela Soares; Jose Pedro Vieira; Maria Margarida Venancio; Renata Oliveira; Inger Jonasson; Adam Ameur; Dalila Pinto; Ulf Gyllensten; Patricia Maciel;
PUBLISHED: 2015, SOURCE: Joint Meeting of the 20th Biennial Meeting of the International-Society-for-Developmental-Neuroscience / 5th Annual NeuroDevNet Brain Development Conference in INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 47
INDEXED IN: WOS CrossRef