Mutation Spectrum in<i>RAB</i><i>3</i><i>GAP</i><i>1</i>,<i>RAB</i><i>3</i><i>GAP</i><i>2</i>, and<i>RAB</i><i>18</i>and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
Mark T. Handley(Institute of Genetics and Cancer), Irene A. Aligianis(Institute of Genetics and Cancer), Grazia M.S. Mancini(Erasmus MC), Patrizia Accorsi(Azienda USL di Pescara), Claudia Izzi(Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia), Maha S. Zaki(National Water Research Center), Anna Jansen(Vrije Universiteit Brussel), Loreto Martorell(Hospital Sant Joan de Déu Barcelona), Lorenzo Pinelli(Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia), Danai Bem(University of Birmingham), Tony Roscioli(New South Wales Department of Health), Fiona MacDonald(Birmingham Women's Hospital), Gabriela Peretz(Rafael Advanced Defense Systems (Israel)), Déborah Morris-Rosendahl, Ghada M. H. Abdel‐Salam(National Research Centre), David Mowat(UNSW Sydney), John M. Graham(Cedars-Sinai Medical Center), Lina Basel‐Vanagaite(Rabin Medical Center), Eamonn R. Maher(Aston University), Guntram Borck(Universität Ulm), Damien Lederer(Institute of Pathology and Genetics), Helen Stewart(St. Mary's Hospital), Ian J. Jackson(Edinburgh Cancer Research), Àngels García‐Cazorla(Areté Associates (United States)), Ian A. Glass(University of Washington), Astrid S. Plomp, Patrick Edery(Hôpital Femme Mère Enfant), Sarah M. Carpanini(UK Dementia Research Institute), Francesca Faravelli, Arndt Rolfs(Population Health Research Institute), E Seemanová(Charles University), S.D.M. Brown(Institute of Genetics and Cancer), Carol Hardy(Birmingham Women's Hospital), Pilar Póo, Fabienne Giuliano
Cited by 133
Related Papers
Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
|Pediatric Neurology|2013|1.5k
Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
|Pediatric Neurology|2013|863
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
|Nature Genetics|2012|752
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
|Pediatric Neurology|2021|727
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
|Nature Genetics|2016|701