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Plos One|December 27, 2018
Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndromeElke C Sattler, Marlene Reithmair, Ortrud K Steinlein
Neurogenetics|September 25, 2003
Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsyWenli Gu, Thomas Sander, Tim Becker, et al.
Epilepsy Research|May 14, 2003
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2Karin Dedek, Lucia Fusco, Nicole Teloy, et al.
BMC Medical Genetics|November 24, 2011
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfectaOrtrud K Steinlein, Eric Aichinger, Holger Trucks, et al.
FEBS Letters|April 23, 2009
Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 geneJean-Charles Hoda, Mario Wanischeck, Daniel Bertrand, et al.
Frontiers in Medicine|November 29, 2023
Risk of pneumothorax in Birt-Hogg-Dubé syndrome during pregnancy and birthOrtrud K Steinlein, Marlene Reithmair, Zulfiya Syunyaeva, et al.
Seizure|November 1, 2011
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypesOrtrud K Steinlein, Jean-Charles Hoda, Sonia Bertrand, et al.
Epilepsia|June 11, 2005
Speech-induced aphasic seizures in epilepsy caused by LGI1 mutationEylert Brodtkorb, Ralf P Michler, Wenli Gu, et al.
Chest|January 21, 2020
Genetic Risk Factors for Spontaneous Pneumothorax in Birt-Hogg-Dubé SyndromeElke C Sattler, Zulfiya Syunyaeva, Ulrich Mansmann, et al.
Eclinicalmedicine|July 25, 2022
Delayed diagnosis of Birt-Hogg-Dubé syndrome might be aggravated by gender biasOrtrud K Steinlein, Marlene Reithmair, Zulfiya Syunyaeva, et al.
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