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Your search keyword '"Bolbocean, Corneliu"' showing total 4 results
Start Over Author "Bolbocean, Corneliu" Journal the american journal of human genetics
4 results on '"Bolbocean, Corneliu"'

1. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Author

Adam, Shelin, du Souich, Christèle, Elliott, Alison M., Lehman, Anna, Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., Boelman, Cyrus, Bolbocean, Corneliu, Buerki, Sarah E., Candido, Tara, Eydoux, Patrice, Evans, Daniel M., Gibson, William, Horvath, Gabriella, Huh, Linda, Sinclair, Graham, Tarling, Tamsin, Toyota, Eric B., Townsend, Katelin N., Van Allen, Margot I., Vercauteren, Suzanne, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Salvarinova, Ramona, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Farrer, Matthew J., Demos, Michelle, Desai, Sonal, and Claydon, Thomas

Published
2017
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2. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Author

Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, and Farrer, Matthew J.

Published
2017
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3. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Author

Guella, Ilaria, primary, McKenzie, Marna B., additional, Evans, Daniel M., additional, Buerki, Sarah E., additional, Toyota, Eric B., additional, Van Allen, Margot I., additional, Suri, Mohnish, additional, Elmslie, Frances, additional, Simon, Marleen E.H., additional, van Gassen, Koen L.I., additional, Héron, Delphine, additional, Keren, Boris, additional, Nava, Caroline, additional, Connolly, Mary B., additional, Demos, Michelle, additional, Farrer, Matthew J., additional, Adam, Shelin, additional, Boelman, Cyrus, additional, Bolbocean, Corneliu, additional, Candido, Tara, additional, Eydoux, Patrice, additional, Horvath, Gabriella, additional, Huh, Linda, additional, Nelson, Tanya N., additional, Sinclair, Graham, additional, van Karnebeek, Clara, additional, and Vercauteren, Suzanne, additional

Published
2017
Full Text
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4. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Author

Lehman, Anna, primary, Thouta, Samrat, additional, Mancini, Grazia M.S., additional, Naidu, Sakkubai, additional, van Slegtenhorst, Marjon, additional, McWalter, Kirsty, additional, Person, Richard, additional, Mwenifumbo, Jill, additional, Salvarinova, Ramona, additional, Guella, Ilaria, additional, McKenzie, Marna B., additional, Datta, Anita, additional, Connolly, Mary B., additional, Kalkhoran, Somayeh Mojard, additional, Poburko, Damon, additional, Friedman, Jan M., additional, Farrer, Matthew J., additional, Demos, Michelle, additional, Desai, Sonal, additional, Claydon, Thomas, additional, Adam, Shelin, additional, du Souich, Christèle, additional, Elliott, Alison M., additional, Lehman, Anna, additional, Nelson, Tanya N., additional, van Karnebeek, Clara, additional, Boelman, Cyrus, additional, Bolbocean, Corneliu, additional, Buerki, Sarah E., additional, Candido, Tara, additional, Eydoux, Patrice, additional, Evans, Daniel M., additional, Gibson, William, additional, Horvath, Gabriella, additional, Huh, Linda, additional, Sinclair, Graham, additional, Tarling, Tamsin, additional, Toyota, Eric B., additional, Townsend, Katelin N., additional, Van Allen, Margot I., additional, and Vercauteren, Suzanne, additional

Published
2017
Full Text
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