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1Academic Journal
المؤلفون: Buijsse, Nathan, Jansen, Floor E, Ockeloen, Charlotte W, van Kempen, Marjan J A, Zeidler, Shimriet, Willemsen, Marjolein H, Scarano, Emanuela, Monticone, Sonia, Zonneveld-Huijssoon, Evelien, Low, Karen J, Bayat, Allan, Sisodiya, Sanjay M, Samanta, Debopam, Lesca, Gaetan, de Jong, Danielle, Giltay, Jaqcues C, Verbeek, Nienke E, Kleefstra, Tjitske, Brilstra, Eva H, Vlaskamp, Danique R M
المساهمون: Neurologen, Brain, Genetica Oper. Mangt Genoom Diagnostiek, Child Health, Genetica Klinische Genetica, Arts-assistenten Kinderen
مصطلحات موضوعية: ANKRD11 gene, genotype–phenotype correlation, neurodevelopment, seizure, Clinical Neurology, Neurology, Journal Article
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., Gardella, Elena
المصدر: Genetics in Medicine ; volume 24, issue 3, page 681-693 ; ISSN 1098-3600
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3Academic Journal
المؤلفون: de Lange, Iris M, Mulder, Flip, van 't Slot, Ruben, Sonsma, Anja C M, van Kempen, Marjan J A, Nijman, Isaac J, Ernst, Robert F, Knoers, Nine V A M, Brilstra, Eva H, Koeleman, Bobby P C
المساهمون: Genetica Klinische Genetica, Child Health, CMM USEQ Facility, Genetica, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Cancer, CMM Groep Cuppen, Genetica Groep Koeleman, Circulatory Health
مصطلحات موضوعية: Dravet, GEFS+, SCN1A, epilepsy, modifier genes, phenotypic variability, Molecular Biology, Genetics, Genetics(clinical)
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: de Lange, Iris M., Mulder, Flip, van 't Slot, Ruben, Sonsma, Anja C. M., van Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
المصدر: de Lange , I M , Mulder , F , van 't Slot , R , Sonsma , A C M , van Kempen , M J A , Nijman , I J , Ernst , R F , Knoers , N V A M , Brilstra , E H & Koeleman , B P C 2020 , ' Modifier genes in SCN1A-related epilepsy syndromes ' , Molecular genetics & genomic medicine , vol. 8 , no. 4 , 1103 . https://doi.org/10.1002/mgg3.1103
مصطلحات موضوعية: Dravet, epilepsy, GEFS+, modifier genes, phenotypic variability, SCN1A, SEVERE MYOCLONIC EPILEPSY, DRAVET-SYNDROME, SCN1A MUTATION, MOUSE MODEL, GEFS PLUS, PHENOTYPES, VARIANTS, FRAMEWORK, SPECTRUM, DELETION
وصف الملف: application/pdf
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5Electronic Resource
المؤلفون: Neurologen, Brain, Genetica Oper. Mangt Genoom Diagnostiek, Child Health, Genetica Klinische Genetica, Arts-assistenten Kinderen, Buijsse, Nathan, Jansen, Floor E, Ockeloen, Charlotte W, van Kempen, Marjan J A, Zeidler, Shimriet, Willemsen, Marjolein H, Scarano, Emanuela, Monticone, Sonia, Zonneveld-Huijssoon, Evelien, Low, Karen J, Bayat, Allan, Sisodiya, Sanjay M, Samanta, Debopam, Lesca, Gaetan, de Jong, Danielle, Giltay, Jaqcues C, Verbeek, Nienke E, Kleefstra, Tjitske, Brilstra, Eva H, Vlaskamp, Danique R M
URL:
https://doi.org/10.1002/epi4.12799 http://hdl.handle.net/1874/449726 http://www.scopus.com/inward/record.url?scp=85168338158&partnerID=8YFLogxK
2470-9239
Epilepsia Open
8
4
1300
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6Academic Journal
المؤلفون: Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, Nordli, Douglas R., Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie
المساهمون: Genetica, Genetica Klinische Genetica, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Child Health, ZL Kinder Ner en Nec Medisch
مصطلحات موضوعية: DEPDC5, Focal cortical dysplasia, Genetic focal epilepsy, mTORC1 pathway, SUDEP, Genetics(clinical)
وصف الملف: image/pdf
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7Academic Journal
المؤلفون: de Lange, Iris M, Gunning, Boudewijn, Sonsma, Anja C M, van Gemert, Lisette, van Kempen, Marjan, Verbeek, Nienke E, Sinoo, Claudia, Nicolai, Joost, Knoers, Nine V A M, Koeleman, Bobby P C, Brilstra, Eva H
المساهمون: Child Health, Genetica Klinische Genetica, Genetica, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Genetica Groep Koeleman, Circulatory Health
مصطلحات موضوعية: Behavioral problems, Comorbidities, Dravet, GEFS+, SCN1A, Journal Article
وصف الملف: image/pdf
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8Academic Journal
المؤلفون: Mignot, Cyril, Mcmahon, Aoife, Bar, Claire, Campeau, Philippe, Davidson, David, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Genevieve, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan, Hagebeuk, Eveline, Hamdan, Fadi, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphne, Marjanovic, Dragan, Metreau, Julia, Michaud, Jacques, Miller, Kathryn, Minassian, Berge, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quélin, Chloé, Rosen, Alyssa, Roume, Joëlle, Rossignol, Elsa, Simon, Marleen, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel, van Der Smagt, Jasper, van Hasselt, Peter, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke, Lesca, Gaetan, Helbig, Katherine, L., Nabbout, Rima, Verbeek, Nienke, E., Depienne, Christel
المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), European Bioinformatics Institute Hinxton (EMBL-EBI), EMBL Heidelberg, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Necker - Enfants Malades AP-HP, Université Paris Descartes - Paris 5 (UPD5), CHU Sainte Justine Montréal, Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Service de Génétique Médicale CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Service de neurologie pédiatrique CHU Necker, Centre de Psychiatrie et Neurosciences (U894), Service de biochimie et de génétique moléculaire CHU Cochin, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin AP-HP, Hôpital Cochin AP-HP, Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, The Hospital for sick children Toronto (SickKids), University of Antwerp (UA), Département de génétique médicale, maladies rares et médecine personnalisée CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Children’s Hospital of Philadelphia (CHOP), Hôpital Saint-Vincent de Paul, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), University of Southern Denmark (SDU), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), University Hospital Motol Prague, Hôpital Raymond Poincaré AP-HP, Center for Medical Genetics Ghent, Ghent University Hospital, University Medical Center Utrecht (UMCU), Institut de Pathologie et Génétique Gosselies (I.P.G.), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, CHI Créteil, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, CHU Trousseau APHP, Université de Lyon, CHI Poissy-Saint-Germain, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Université libre de Bruxelles (ULB), Hôpital Erasme = Erasmus Hospital = Erasmus Ziekenhuis (HUB-ULB), Antwerp University Hospital Edegem (UZA), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Rennes
المصدر: ISSN: 1098-3600.
مصطلحات موضوعية: intellectual disability, isoforms, epilepsy, X-linked inheritance, IQSEC2, [SDV]Life Sciences [q-bio], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Relation: info:eu-repo/semantics/altIdentifier/pmid/30206421; PUBMED: 30206421
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9Academic Journal
المؤلفون: de Lange, Iris M, Koudijs, Marco J, van 't Slot, Ruben, Sonsma, Anja C M, Mulder, Flip, Carbo, Ellen C, van Kempen, Marjan J A, Nijman, Isaac J, Ernst, Robert F, Savelberg, Sanne M C, Knoers, Nine V A M, Brilstra, Eva H, Koeleman, Bobby P C
المصدر: de Lange , I M , Koudijs , M J , van 't Slot , R , Sonsma , A C M , Mulder , F , Carbo , E C , van Kempen , M J A , Nijman , I J , Ernst , R F , Savelberg , S M C , Knoers , N V A M , Brilstra , E H & Koeleman , B P C 2019 , ' Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing ' , Journal of Medical Genetics , vol. 56 ....
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: Mignot, Cyril, McMahon, Aoife C, Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M, Hagebeuk, Eveline, Hamdan, Fadi F, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L, Miller, Kathryn, Minassian, Berge A, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R, Roume, Joelle, Rossignol, Elsa, Simon, Marleen E H, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P, van der Smagt, Jasper J, van Hasselt, Peter M, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S, Lesca, Gaetan, Helbig, Katherine L, Nabbout, Rima, Verbeek, Nienke E, Depienne, Christel
المصدر: Mignot , C , McMahon , A C , Bar , C , Campeau , P M , Davidson , C , Buratti , J , Nava , C , Jacquemont , M-L , Tallot , M , Milh , M , Edery , P , Marzin , P , Barcia , G , Barnerias , C , Besmond , C , Bienvenu , T , Bruel , A-L , Brunga , L , Ceulemans , B , Coubes , C , Cristancho , A G , Cunningham , F , Dehouck , M-B , Donner , E J ....
مصطلحات موضوعية: IQSEC2, X-linked inheritance, epilepsy, intellectual disability, isoforms
وصف الملف: application/pdf
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11Academic Journal
المؤلفون: Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, de Saint Martin, Anne, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik H., Jansen, Floor E., Braun, Kees, de Jong, Daniëlle, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d'Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud, Lebre, Anne Sophie, Jennesson, Mélanie, Sattar, Shifteh, Marchal, Cécile, NordliJr, Douglas R., Lindstrom, Kristin, Striano, Pasquale, Lomax, Lysa Boissé, Kiss, Courtney, Bartolomei, Fabrice, Lepine, Anne Fabienne, Schoonjans, An Sofie, Stouffs, Katrien, Jansen, Anna, Panagiotakaki, Eleni, Ricard-Mousnier, Brigitte, Thevenon, Julien, de Bellescize, Julitta, Catenoix, Hélène, Dorn, Thomas, Zenker, Martin, Müller-Schlüter, Karen, Brandt, Christian, Krey, Ilona, Polster, Tilman, Wolff, Markus, Balci, Meral, Rostasy, Kevin, Achaz, Guillaume, Zacher, Pia, Becher, Thomas, Cloppenborg, Thomas, Yuskaitis, Christopher J., Weckhuysen, Sarah, Poduri, Annapurna, Lemke, Johannes R., Møller, Rikke S., Baulac, Stéphanie
المصدر: Baldassari , S , Picard , F , Verbeek , N E , van Kempen , M , Brilstra , E H , Lesca , G , Conti , V , Guerrini , R , Bisulli , F , Licchetta , L , Pippucci , T , Tinuper , P , Hirsch , E , de Saint Martin , A , Chelly , J , Rudolf , G , Chipaux , M , Ferrand-Sorbets , S , Dorfmüller , G , Sisodiya , S , Balestrini , S , Schoeler , N , Hernandez-Hernandez , L , Krithika , ....
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12Academic Journal
المؤلفون: Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M., Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E.H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
المصدر: Mignot , C , McMahon , A C , Bar , C , Campeau , P M , Davidson , C , Buratti , J , Nava , C , Jacquemont , M L , Tallot , M , Milh , M , Edery , P , Marzin , P , Barcia , G , Barnerias , C , Besmond , C , Bienvenu , T , Bruel , A L , Brunga , L , Ceulemans , B , Coubes , C , Cristancho , A G , Cunningham , F , Dehouck , M B , Donner ....
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13Academic Journal
المؤلفون: de Lange, Iris M, Weuring, Wout, van 't Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C M, McCormack, Mark, de Kovel, Carolien, van Gemert, Lisette J J M, Mulder, Flip, van Kempen, Marjan J A, Knoers, Nine V A M, Brilstra, Eva H, Koeleman, Bobby P C
المصدر: de Lange , I M , Weuring , W , van 't Slot , R , Gunning , B , Sonsma , A C M , McCormack , M , de Kovel , C , van Gemert , L J J M , Mulder , F , van Kempen , M J A , Knoers , N V A M , Brilstra , E H & Koeleman , B P C 2019 , ' Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes ' , Molecular genetics & genomic medicine , vol. 7 , no. 7 ....
وصف الملف: application/pdf
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14Academic Journal
المؤلفون: de Lange, Iris M., Weuring, Wout, van ‘t Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C.M., McCormack, Mark, de Kovel, Carolien, van Gemert, Lisette J.J.M., Mulder, Flip, van Kempen, Marjan J.A., Knoers, Nine V.A.M., Brilstra, Eva H., Koeleman, Bobby P.C.
المساهمون: Genetica, Child Health, Genetica Groep Koeleman, Genetica Klinische Genetica, CMM USEQ Facility, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Cancer, Circulatory Health
مصطلحات موضوعية: 5' Untranslated Regions, Adolescent, Adult, Alleles, Cell Line, Tumor, Child, Preschool, Epilepsy/genetics, Genes, Reporter, Genome-Wide Association Study, Haplotypes, Humans, Male, NAV1.1 Voltage-Gated Sodium Channel/genetics, Phenotype, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Severity of Illness Index, Young Adult, GEFS+, Dravet, promoter, variable expression, SCN1A, Genetics(clinical), Genetics
وصف الملف: image/pdf
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15Academic Journal
المؤلفون: Baldassari, Sara, Picard, Fabienne, Verbeek, Nienke E., van Kempen, Marjan, Brilstra, Eva H., Lesca, Gaetan, Conti, Valerio, Guerrini, Renzo, Bisulli, Francesca, Licchetta, Laura, Pippucci, Tommaso, Tinuper, Paolo, Hirsch, Edouard, Martin, Anne de Saint, Chelly, Jamel, Rudolf, Gabrielle, Chipaux, Mathilde, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Sisodiya, Sanjay, Balestrini, Simona, Schoeler, Natasha, Hernandez-Hernandez, Laura, Krithika, S., Oegema, Renske, Hagebeuk, Eveline, Gunning, Boudewijn, Deckers, Charles, Berghuis, Bianca, Wegner, Ilse, Niks, Erik, Jansen, Floor, Braun, Kees, Jong, Daniëlle de, Rubboli, Guido, Talvik, Inga, Sander, Valentin, Uldall, Peter, Jacquemont, Marie-Line, Nava, Caroline, Leguern, Eric, Julia, Sophie, Gambardella, Antonio, d’Orsi, Giuseppe, Crichiutti, Giovanni, Faivre, Laurence, Darmency, Veronique, Benova, Barbora, Krsek, Pavel, Biraben, Arnaud
المصدر: Genetics in Medicine ; volume 21, issue 7, page 1671 ; ISSN 1098-3600
الاتاحة: https://doi.org/10.1038/s41436-018-0284-1
http://www.nature.com/articles/s41436-018-0284-1.pdf
http://www.nature.com/articles/s41436-018-0284-1
https://api.elsevier.com/content/article/PII:S1098360021016774?httpAccept=text/xml
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16Academic Journal
المؤلفون: de Lange, Iris M., Gunning, Boudewijn, Sonsma, Anja C.M., van Gemert, Lisette, van Kempen, Marjan, Verbeek, Nienke E., Sinoo, Claudia, Nicolai, Joost, Knoers, Nine V.A.M., Koeleman, Bobby P.C., Brilstra, Eva H.
المساهمون: Stichting Vrienden WKZ, Stichting Panta Rhei, Dutch Epilepsy Foundation, COFRA
المصدر: Epilepsy & Behavior ; volume 90, page 252-259 ; ISSN 1525-5050
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17Conference
المؤلفون: Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Perez, Eduardo, Lal, Dennis, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju, Deprez, Marie, de Waele, Liesbeth, Brilstra, Eva, Verbeek, Nienke E., van Kempen, Marjan van Kempen, Visser, Gerhard, Braakman, Hilde M. H., Haeusler, Martin, Elbracht, Miriam, Sternman, David, Vaher, Ulvi, Smol, Thomas, Kennedy, Joanna, Klein, Karl Martin, Au, Billie, Smyth, Kimberly, Morgan, Thomas, Dewenter, Malin, Dinopoulos, Argirios, Lederer, Damien, Liao, Vivian, Ahring, Philip K., Moller, Rikke S., Gardella, Elena
المصدر: Johannesen , K M , Iqbal , S , Guazzi , M , Mohammadi , N A , Perez , E , Lal , D , Schaefer , E , De Saint Martin , A , Abiwarde , M T , McTague , A , Pons , R , Piton , A , Kurian , M , Deprez , M , de Waele , L , Brilstra , E , Verbeek , N E , van Kempen , M V K , Visser , G , Braakman , H M H , Haeusler , M , Elbracht , M ....
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18Academic Journal
المؤلفون: de Lange, Iris M., Gunning, Boudewijn, Sonsma, Anja C.M., van Gemert, Lisette, van Kempen, Marjan, Verbeek, Nienke E., Nicolai, Joost, Knoers, Nine V.A.M., Koeleman, Bobby P.C., Brilstra, Eva H.
المساهمون: Genetica Klinische Genetica, Child Health, Genetica, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Genetica Groep Koeleman, Circulatory Health
مصطلحات موضوعية: cognition, Dravet syndrome, GEFS+, SCN1A, sodium-channel blockers, Neurology, Clinical Neurology
وصف الملف: image/pdf
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19Academic Journal
المؤلفون: de Lange, Iris M., Koudijs, Marco J., van 't Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C.M., van Gemert, Lisette J.J.M., Mulder, Flip, Carbo, Ellen C., van Kempen, Marjan J.A., Verbeek, Nienke E., Nijman, Isaac J., Ernst, Robert F., Savelberg, Sanne M.C., Knoers, Nine V.A.M., Brilstra, Eva H., Koeleman, Bobby P.C.
المساهمون: Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Sectie Genomics and Bioinformatics, Genetica Oper. Mangt Genoom Diagnostiek, Brain, CMM Groep Cuppen, Genetica Medische Informatica, Cancer, Genetica Groep Koeleman, Circulatory Health
مصطلحات موضوعية: Dravet syndrome, epilepsy, mosaicism, postzygotic mutation, SCN1A, Neurology, Clinical Neurology
وصف الملف: image/pdf
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20Academic Journal
المؤلفون: de Kovel, Carolien G F, Brilstra, Eva H, van Kempen, Marjan J A, Van't Slot, Ruben, Nijman, Isaac J, Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna-Elina E, Lemke, Johannes R, Marini, Carla, Mei, Davide, Møller, Rikke S, Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, S, Balling, R, Barisic, N, Baulac, S, Caglayan, HS, Craiu, DC, Depienne, C, Gormley, P, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, KM, Komarek, V, LeGuern, E, Lerche, H, May, P, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, JM, Sisodiya, SM, Stephani, U, Sterbova, K, Striano, P, Talvik, T, van Haelst, M, Verbeek, N, von Spiczak, S, Weber, YG, Koeleman, BPC.
المساهمون: de Kovel, Carolien G F, Brilstra, Eva H, van Kempen, Marjan J A, Van't Slot, Ruben, Nijman, Isaac J, Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna-Elina E, Lemke, Johannes R, Marini, Carla, Mei, Davide, Møller, Rikke S, Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, S, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, Dc, Depienne, C, Gormley, P, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, Km, Komarek, V, Leguern, E, Lerche, H, May, P, Muhle, H, Pal, D, Palotie, A, Rosenow, F, Selmer, K, Serratosa, Jm, Sisodiya, Sm, Stephani, U, Sterbova, K, Striano, P, Talvik, T, van Haelst, M, Verbeek, N, von Spiczak, S, Weber, Yg, Koeleman, Bpc.
مصطلحات موضوعية: De novo, HNRNPU, X‐linked, epileptic encephalopathy, loss‐of‐function, prioritization, recessive, targeted panel sequencing
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/27652284; info:eu-repo/semantics/altIdentifier/wos/WOS:000394450500010; volume:4; firstpage:568; lastpage:580; numberofpages:13; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11567/854821; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85015718168
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