Roland Spiegel
Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
Higgins R, Fischer T, Schwieger-Briel A, French L, Hoetzenecker W, Hornung R, Malzacher A, Cozzio A, Navarini A, Has C, Chang Y, Desislava I, Jensen A, Wachstein J, Bruckner-Tuderman L, Spiegel R, Traber H, Achermann J, Schaller M, Fehrenbacher B, Röcken M, Guenova E. Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn. Acta Derm Venereol 2020; 100:adv00041.
Jan 30, 2020Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
Jan 30, 2020Acta Derm Venereol 2020; 100:adv00041
Higgins Rebecca, Fischer Tina, Schwieger-Briel Agnes E, French Lars E, Hoetzenecker Wolfram, Hornung René, Malzacher Andreas, Cozzio Antonio, Navarini Alexander, Has Cristina, Chang Yun-Tsan, Desislava Ignatova, Jensen Annika N, Wachstein Julian, Bruckner-Tuderman Leena, Spiegel Roland, Traber Hubert, Achermann Josef, Schaller Martin, Fehrenbacher Birgit, Röcken Martin, Guenova Emmanuella
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype
Matthews E, Houlden H, Schaefer A, Healy E, Palace J, Quinlivan R, Treves S, Holton J, Jungbluth H, Mein R, Spiegel R, Neuwirth C, Jaffer F, Scalco R, Fialho D, Parton M, Raja Rayan D, Suetterlin K, Sud R, Hanna M. Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Neurology 2018
Jan 3, 2018Atypical periodic paralysis and myalgia: A novel RYR1 phenotype
Jan 3, 2018Neurology 2018
Matthews Emma, Houlden Henry, Schaefer Andrew, Healy Estelle, Palace Jacqueline, Quinlivan Ros, Treves Susan, Holton Janice L, Jungbluth Heinz, Mein Rachel, Spiegel Roland, Neuwirth Christoph, Jaffer Fatima, Scalco Renata S, Fialho Doreen, Parton Matt, Raja Rayan Dipa, Suetterlin Karen, Sud Richa, Hanna Michael G