Search Results - Helbig, Ingo

The dose makes the poison—Novel insights into Dravet syndrome and SCN1A regulation through nonproductive splicing by Helbig, Ingo, Goldberg, Ethan

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Genetics of the epilepsies: where are we and where are we going? by Helbig, Ingo, Lowenstein, Daniel H.

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Base editing the synapse: Modeling a complex neurological disorder in non-human primates by Prosser, Benjamin L., Helbig, Ingo

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Understanding Genotypes and Phenotypes in Epileptic Encephalopathies by Helbig, Ingo, Tayoun, Abou Ahmad N.

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Familial cosegregation of rare genetic variants with disease in complex disorders by Helbig, Ingo, Hodge, Susan E, Ottman, Ruth

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CNVineta: a data mining tool for large case–control copy number variation datasets by Wittig, Michael, Helbig, Ingo, Schreiber, Stefan, Franke, Andre

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Early-onset genetic epilepsies reaching adult clinics by Lewis-Smith, David, Ellis, Colin A, Helbig, Ingo, Thomas, Rhys H

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Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records by Havrilla, James Margolin, Zhao, Mengge, Liu, Cong, Weng, Chunhua, Helbig, Ingo, Bhoj, Elizabeth, Wang, Kai

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In vivo evidence for the involvement of the carboxy terminal domain in assembling connexin 36 at the electrical synapse by Helbig, Ingo, Sammler, Esther, Eliava, Marina, Bolshakov, Alexey P., Rozov, Andrei, Bruzzone, Roberto, Monyer, Hannah, Hormuzdi, Sheriar Gustad

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Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning by Boßelmann, Christian Malte, Hedrich, Ulrike B.S., Müller, Peter, Sonnenberg, Lukas, Parthasarathy, Shridhar, Helbig, Ingo, Lerche, Holger, Pfeifer, Nico

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Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome by Muhle, Hiltrud, Mefford, Heather C, Obermeier, Tanja, von Spiczak, Sarah, Eichler, Evan E, Stephani, Ulrich, Sander, Thomas, Helbig, Ingo

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Status Epilepticus and Refractory Status Epilepticus Management by Abend, Nicholas S., Bearden, David, Helbig, Ingo, McGuire, Jennifer, Narula, Sona, Panzer, Jessica A., Topjian, Alexis, Dlugos, Dennis J.

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PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care by Havrilla, James M., Singaravelu, Anbumalar, Driscoll, Dennis M., Minkovsky, Leonard, Helbig, Ingo, Medne, Livija, Wang, Kai, Krantz, Ian, Desai, Bimal R.

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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss by Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami

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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation by Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo

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Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation by Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo

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Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci by Saadati, Hamid Reza, Wittig, Michael, Helbig, Ingo, Häsler, Robert, Anderson, Carl A., Mathew, Christopher G., Kupcinskas, Limas, Parkes, Miles, Karlsen, Tom Hemming, Rosenstiel, Philip, Schreiber, Stefan, Franke, Andre

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Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis by Hartmann, Corinna, von Spiczak, Sarah, Suls, Arvid, Weckhuysen, Sarah, Buyse, Gunnar, Vilain, Catheline, Van Bogaert, Patrick, De Jonghe, Peter, Cook, Joseph, Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Mefford, Heather C.

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Mutations in SCN3A cause early infantile epileptic encephalopathy by Zaman, Tariq, Helbig, Ingo, Božović, Ivana Babić, DeBrosse, Suzanne D., Bergqvist, A. Christina, Wallis, Kimberly, Medne, Livija, Maver, Aleš, Peterlin, Borut, Helbig, Katherine L., Zhang, Xiaohong, Goldberg, Ethan M.

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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable by Lewis-Smith, David, Galer, Peter D., Balagura, Ganna, Kearney, Hugh, Ganesan, Shiva, Cosico, Mahgenn, O’Brien, Margaret, Vaidiswaran, Priya, Krause, Roland, Ellis, Colin A., Thomas, Rhys H., Robinson, Peter N., Helbig, Ingo

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