نتائج البحث - "Schelhaas, H Jurgen"

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دورية أكاديمية

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

المؤلفون: Helbig, Katherine L, Lauerer, Robert J, Bahr, Jacqueline C, Souza, Ivana A, Myers, Candace T, Uysal, Betül, Schwarz, Niklas, Gandini, Maria A, Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, de Villemeur, Thierry Billette, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R, Soerensen, Kristina P, Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A, Gunning, Boudewijn, Schelhaas, H Jurgen, Kruer, Michael C, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C, Klee, Eric W, Tillema, Jan-Mendelt, Payne, Eric T, Cousin, Margot A, Kruisselbrink, Teresa M, Wick, Myra J, Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E, Katsanis, Nicholas, Genomics, Task Force for Neonatal, Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C Michael, Curington, Theresa, Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A, MacLennan, Alastair H, Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E, Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D, Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D

المصدر: American Journal of Human Genetics. 103(5)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Neurodegenerative, Brain Disorders, Neurosciences, Epilepsy, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Calcium Channels, R-Type, Cation Transport Proteins, Child, Child, Preschool, Contracture, Dyskinesias, Female, Genetic Variation, Humans, Infant, Male, Megalencephaly, Neurodevelopmental Disorders, Spasms, Infantile, Task Force for Neonatal Genomics, Deciphering Developmental Disorders Study, CACNA1E, ion channel, arthrogryposis, calcium channel, epilepsy, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2061z9kgTest

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2

دورية أكاديمية

Correction:De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, Billette, de Villemeur T, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R, Soerensen, Kristina P, Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A, Gunning, Boudewijn, Schelhaas, H Jurgen, Kruer, Michael C, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C, Klee, Eric W, Tillema, Jan-Mendelt, Payne, Eric T, Cousin, Margot A, Kruisselbrink, Teresa M, Wick, Myra J., Baker, Joshua, Haan, Eric, Kerr, Bronwyn, Hughes, Imelda, Banka, Siddharth

المصدر: Deciphering Developmental Disorders Study , Task Force for Neonatal Genomics , Helbig , KL , Lauerer , RJ , Bahr , JC , Souza , IA , Myers , CT , Uysal , B , Schwarz , N , Gandini , MA , Huang , S , Keren , B , Mignot , C , Afenjar , A , Billette , D V T , Héron , D , Nava , C , Valence , S , Buratti , J , Fagerberg , C R , Soerensen , K P , Kibaek , M , Kamsteeg , E-J , ....

العلاقة: https://research.manchester.ac.uk/en/publications/fc4ac340-f5bd-47d6-95f9-e21fef427cf9Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.015Test
https://research.manchester.ac.uk/en/publications/fc4ac340-f5bd-47d6-95f9-e21fef427cf9Test
http://europepmc.org/abstract/med/30849329Test

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3

دورية أكاديمية

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

المؤلفون: Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Uysal, Betül, Schwarz, Niklas, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Kruer, Michael C., Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E.

المصدر: The American Journal of Human Genetics ; volume 104, issue 3, page 562 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.015Test
https://api.elsevier.com/content/article/PII:S0002929719300606?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719300606?httpAccept=text/plainTest

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4

دورية أكاديمية

Psychogenic nonepileptic seizures in adults with epilepsy and intellectual disability:A neglected area

المؤلفون: van Ool, Jans S., Haenen, Alexandra I., Snoeijen-Schouwenaars, Francesca M., Aldenkamp, Albert P., Hendriksen, Jos G. M., Schelhaas, H. Jurgen, Tan, In Y., Lazeron, Richard H. C., Bodde, Nynke M. G.

المصدر: van Ool , J S , Haenen , A I , Snoeijen-Schouwenaars , F M , Aldenkamp , A P , Hendriksen , J G M , Schelhaas , H J , Tan , I Y , Lazeron , R H C & Bodde , N M G 2018 , ' Psychogenic nonepileptic seizures in adults with epilepsy and intellectual disability : A neglected area ' , SEIZURE-EUROPEAN JOURNAL OF EPILEPSY , vol. 59 , pp. 67-71 . https://doi.org/10.1016/j.seizure.2018.05.002Test

مصطلحات موضوعية: PNES, Functional seizures, Developmental disability, Behaviour, Differential diagnosis, DEPRESSION, BEHAVIOR, ANXIETY

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.seizure.2018.05.002Test
https://cris.maastrichtuniversity.nl/en/publications/a0262bfd-bb2f-4672-8261-d87798e386f4Test
https://cris.maastrichtuniversity.nl/ws/files/89581958/Hendriksen_2018_Psychogenic_nonepilectic_seizures_in_adults.pdfTest

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