Katalin Szakszon
AuthID: R-00G-E5K
1
TITLE: A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing Full Text
AUTHORS: Ruestem Yilmaz; Ana Beleza Meireles; Susan Price; Renata Oliveira; Christian Kubisch; Jill Clayton Smith; Katalin Szakszon; Guntram Borck;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 12
AUTHORS: Ruestem Yilmaz; Ana Beleza Meireles; Susan Price; Renata Oliveira; Christian Kubisch; Jill Clayton Smith; Katalin Szakszon; Guntram Borck;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 12
2
TITLE: New mutations in the ATM gene and clinical data of 25 AT patients Full Text
AUTHORS: Ilja Demuth; Veronique Dutrannoy; Wilson Marques; Heidemarie Neitzel; Detlev Schindler; Petja S Dimova; Krystyna H Chrzanowska; Veneta Bojinova; Hanna Gregorek; Luitgard M Graul Neumann; Arpad von Moers; Ilka Schulze; Marion Nicke; Elcin Bora; Tufan Cankaya; Eva Olah; Csongor Kiss; Beata Bessenyei; Katalin Szakszon; Ursula Gruber Sedlmayr; ...More
PUBLISHED: 2011, SOURCE: NEUROGENETICS, VOLUME: 12, ISSUE: 4
AUTHORS: Ilja Demuth; Veronique Dutrannoy; Wilson Marques; Heidemarie Neitzel; Detlev Schindler; Petja S Dimova; Krystyna H Chrzanowska; Veneta Bojinova; Hanna Gregorek; Luitgard M Graul Neumann; Arpad von Moers; Ilka Schulze; Marion Nicke; Elcin Bora; Tufan Cankaya; Eva Olah; Csongor Kiss; Beata Bessenyei; Katalin Szakszon; Ursula Gruber Sedlmayr; ...More
PUBLISHED: 2011, SOURCE: NEUROGENETICS, VOLUME: 12, ISSUE: 4
