Guntram Borck
AuthID: R-00G-N5T
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TITLE: BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
AUTHORS: Guntram Borck; Friederike Hog; Maria Lisa Dentici; Perciliz L Tan; Nadine Sowada; Ana Medeira; Lucie Gueneau; Holger Thiele; Maria Kousi; Francesca Lepri; Larissa Wenzeck; Ian Blumenthal; Antonio Radicioni; Tito Livio Schwarzenberg; Barbara Mandriani; Rita Fischetto; Deborah J Morris Rosendahl; Janine Altmuller; Alexandre Reymond; Peter Nurnberg; ...More
PUBLISHED: 2015, SOURCE: GENOME RESEARCH, VOLUME: 25, ISSUE: 2
AUTHORS: Guntram Borck; Friederike Hog; Maria Lisa Dentici; Perciliz L Tan; Nadine Sowada; Ana Medeira; Lucie Gueneau; Holger Thiele; Maria Kousi; Francesca Lepri; Larissa Wenzeck; Ian Blumenthal; Antonio Radicioni; Tito Livio Schwarzenberg; Barbara Mandriani; Rita Fischetto; Deborah J Morris Rosendahl; Janine Altmuller; Alexandre Reymond; Peter Nurnberg; ...More
PUBLISHED: 2015, SOURCE: GENOME RESEARCH, VOLUME: 25, ISSUE: 2
2
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