المؤلفون: Dang, An N, Chang, Irene J, Jiang, Xutian, Wolfe, Lynne A, Ng, Bobby G, Lam, Christina, Schnur, Rhonda E, Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D, Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y, Wolfenson, Zoe, Perreault, John, Ory, Daniel S, Freeze, Hudson H, Merritt, J Lawrence, Porter, Forbes D

المصدر: Journal of Inherited Metabolic Disease. 46(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Pediatric, Digestive Diseases, Liver Disease, Infant, Child, Humans, Oxysterols, Congenital Disorders of Glycosylation, Niemann-Pick Disease, Type C, Glycosylation, Bile Acids and Salts, Hydrolases, Vacuolar Proton-Translocating ATPases, ATP6AP1, bile acids, congenital disorders of glycosylation, Niemann-pick type C, N-palmitoyl-O-phosphocholineserine, oxysterols, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/39n7s551Test

المؤلفون: Nil, Zelha, Deshwar, Ashish R, Barish, Scott, Zhang, Xi, Choufani, Sanaa, Le Quesne Stabej, Polona, Hayes, Ian, Yap, Patrick, Haldeman-Englert, Chad, Wilson, Carolyn, Prescott, Trine, Tveten, Kristian, Vøllo, Arve, Haynes, Devon, Wheeler, Patricia G, Zon, Jessica, Cytrynbaum, Cheryl, Jobling, Rebekah, Blyth, Moira, Banka, Siddharth, Afenjar, Alexandra, Mignot, Cyril, Robin-Renaldo, Florence, Keren, Boris, Kanca, Oguz, Mao, Xiao, Wegner, Daniel J, Sisco, Kathleen, Shinawi, Marwan, Wangler, Michael F, Weksberg, Rosanna, Yamamoto, Shinya, Costain, Gregory, Bellen, Hugo J

المصدر: Undiagnosed Disease Network , Nil , Z , Deshwar , A R , Barish , S , Zhang , X , Choufani , S , Le Quesne Stabej , P , Hayes , I , Yap , P , Haldeman-Englert , C , Wilson , C , Prescott , T , Tveten , K , Vøllo , A , Haynes , D , Wheeler , P G , Zon , J , Cytrynbaum , C , Jobling , R , Blyth , M , Banka , S , Afenjar , A , Mignot , C , Robin-Renaldo , F ....

مصطلحات موضوعية: DOT1 Like histone lysine methyltransferase, DOT1L, Drosophila, H3K79 methylation, congenital anomalies, developmental delay, gain of function, gpp, grappa, histone lysine methyltransferase

وصف الملف: application/pdf

العلاقة: https://research.manchester.ac.uk/en/publications/cb9f487d-0f97-40cc-b17e-61506f33e83bTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.09.009Test
https://research.manchester.ac.uk/en/publications/cb9f487d-0f97-40cc-b17e-61506f33e83bTest
https://pure.manchester.ac.uk/ws/files/292109631/Rare_de_novo_gain-of-function_missense_variants_in_DOT1L.pdfTest
http://www.scopus.com/inward/record.url?scp=85175294344&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/56c1f304-c765-3257-8173-812d11d181e6Test/

المؤلفون: Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M. H., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, B. nédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Destrée, Anne, Schoonjans, An Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S.

المصدر: Johannesen , K M , Liu , Y , Koko , M , Gjerulfsen , C E , Sonnenberg , L , Schubert , J , Fenger , C D , Eltokhi , A , Rannap , M , Koch , N A , Lauxmann , S , Krüger , J , Kegele , J , Canafoglia , L , Franceschetti , S , Mayer , T , Rebstock , J , Zacher , P , Ruf , S , Alber , M , Sterbova , K , Lassuthová , P , Vlckova , M , Lemke , J ....

العلاقة: https://research.vumc.nl/en/publications/4003f414-31ea-4133-b28f-02979a4826dfTest

الإتاحة: https://doi.org/10.1093/brain/awab321Test
https://research.vumc.nl/en/publications/4003f414-31ea-4133-b28f-02979a4826dfTest
http://www.scopus.com/inward/record.url?scp=85138447351&partnerID=8YFLogxKTest

المؤلفون: MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vollo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba-Papanicolaou, Eleni, Christophidou-Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.

المصدر: MacKenzie , K C , de Graaf , B M , Syrimis , A , Zhao , Y , Brosens , E , Mancini , G M S , Schot , R , Halley , D , Wilke , M , Vollo , A , Flinter , F , Green , A , Mansour , S , Pilch , J , Stark , Z , Zamba-Papanicolaou , E , Christophidou-Anastasiadou , V , Hofstra , R M W , Jongbloed , J D H , Nicolaou , N , Tanteles , G A , Brooks , A S & ....

مصطلحات موضوعية: GOSHS, HSCR, KIAA1279, KIFBP, missense variants, HIRSCHSPRUNG-DISEASE, CONGENITAL MEGACOLON, MICROTUBULE DYNAMICS, MENTAL-RETARDATION, UNUSUAL FACE, RET GENE, KBP, MUTATION, PROTEIN, ASSOCIATION

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/1f4cae4c-a5fa-4141-940c-f6e990cc588aTest

الإتاحة: https://doi.org/10.1002/humu.24097Test
https://hdl.handle.net/11370/1f4cae4c-a5fa-4141-940c-f6e990cc588aTest
https://research.rug.nl/en/publications/1f4cae4c-a5fa-4141-940c-f6e990cc588aTest
https://pure.rug.nl/ws/files/160828231/humu.24097.pdfTest

المؤلفون: Bryant, Laura, Li, Dong, Cox, Samuel G., Marchione, Dylan, Joiner, Evan F., Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E., Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J., Wadley, Alexandrea, Mancini, Grazia M. S., Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P., Powis, Zoe, Cho, Megan T., Willing, Marcia C., Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B., Retterer, Kyle, Schuette, Jane L., Innis, Jeffrey W., Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M., Monaghan, Kristin G., Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A., Lyons, Michael J., Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L., Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H., Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin D., Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G., Martinez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Wan, Jijun, Yoon, Amanda J., Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M., Gotway, Garrett, Stuurman, K. E., Thompson, Michelle L., McWalter, Kirsty, Stumpel, Constance T. R. M., Stevens, Servi J. C., Stegmann, Alexander P. A., Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin J., Byler, Melissa, Lebel, Robert Roger, Hurst, Anna C., Dean, Joy, Schrier Vergano, Samantha A., Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, Van Allen, Margot I., Longo, Nicola, Sellars, Elizabeth, Louie, Raymond J., Cathey, Sara S., Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla Sirera, Natàlia, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon, Bhoj, Elizabeth J., Universitat Autònoma de Barcelona

وصف الملف: application/pdf

العلاقة: Science advances; Vol. 6 (december 2020); https://ddd.uab.cat/record/253154Test; urn:10.1126/sciadv.abc9207; urn:oai:ddd.uab.cat:253154; urn:pmcid:PMC7821880; urn:pmc-uid:7821880; urn:pmid:33268356; urn:oai:pubmedcentral.nih.gov:7821880

الإتاحة: https://ddd.uab.cat/record/253154Test

المؤلفون: Johannesen, Katrine M., Liu, Yuanyuan, Gjerulfsen, Cathrine E., Koko, Mahmoud, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, S.Verhoeven, Judith, van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Schmidt-Petersen, Mette U., Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S.

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: https://www.medrxiv.org/content/early/2021/03/26/2021.03.22.21253711Test; FNR11583046 - Epileptogenesis Of Genetic Epilepsies, 2017 (01/04/2018-30/06/2021) - Roland Krause; https://orbilu.uni.lu/handle/10993/46850Test; info:hdl:10993/46850; https://orbilu.uni.lu/bitstream/10993/46850/1/2021.03.22.21253711v1.full.pdfTest

الإتاحة: https://doi.org/10.1101/2021.03.22.21253711Test
https://orbilu.uni.lu/handle/10993/46850Test
https://orbilu.uni.lu/bitstream/10993/46850/1/2021.03.22.21253711v1.full.pdfTest

المؤلفون: Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P Y, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L, Helbig, Ingo, Fitzgerald, Mark P, Goldberg, Ethan M, Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O, Lesca, Gaetan, Hedrich, Ulrike B S, Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S

المساهمون: Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain

مصطلحات موضوعية: Epilepsy, Generalized/drug therapy, Epileptic Syndromes/drug therapy, Genetic Association Studies, Humans, Infant, Intellectual Disability/genetics, Mutation, NAV1.6 Voltage-Gated Sodium Channel/genetics, Prognosis, SCN8A, Seizures/drug therapy, Sodium Channel Blockers/therapeutic use, genetics, personalized medicine, General Medicine, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/443446Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/443446Test

المؤلفون: Johannesen, Katrine Marie, Liu, Yuanyuan, Gjerulfsen, Catherine E., Koko, Mahmoud, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina Duhring, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils, Lauxmann, Stephan, Krueger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthova, Petra, Vlckova, Marketa, Lemke, Johannes, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell, Judith, Lund, Caroline, Klein, Karl Martin, Au, Py Billie, Rho, Jong, Ho, Alice, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoi-Hansen, Christina, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., van der Zwaag, Bert, Harder, Aster, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastien, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Schmidt-Petersen, Mette, Gronborg, Sabine, Scherer, Stephen, Howe, Jennifer, Fazeli, Walid, Howell, Katherine, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Benedicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vollo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caumes, Roseline, Roubertie, Agathe, Gelisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Koch-Hogrebe, Margarete, Perry, Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann, Mueller-Schlueter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destree, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddarth, Tan, Wen-Hann, Olson, Heather, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark, Goldberg, Ethan M., Roser, Timo, Borggrafe, Ingo, Brunger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Lesca, Gaetan, Hedrich, Ulrike, Benda, Jan, Gardella, Elena, Lerche, Holger, Moeller, Rikke Steensbjerre

المصدر: Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079Test

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3062::80cf7da5c507b677606c3e69b5c0108dTest
https://portal.findresearcher.sdu.dk/da/publications/dbc1ad76-767b-4f9b-ae13-c20c093d233eTest

المؤلفون: Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P Y, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen-Hann, Olson, Heather E, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L, Helbig, Ingo, Fitzgerald, Mark P, Goldberg, Ethan M, Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O, Lesca, Gaetan, Hedrich, Ulrike B S, Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S

المساهمون: Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Luka, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thoma, Rebstock, Johanne, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Billie Au, P Y, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Minh Le, Ngoc, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Philli, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destrée, Anne

مصطلحات موضوعية: SCN8A, epilepsy, genetic, personalized medicine

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34431999; info:eu-repo/semantics/altIdentifier/wos/WOS:000714115400054; volume:62; firstpage:34; lastpage:36; numberofpages:3; journal:BRAIN; http://hdl.handle.net/11577/3441340Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85138447351

الإتاحة: https://doi.org/10.1093/brain/awab321Test
http://hdl.handle.net/11577/3441340Test

المؤلفون: Ng, Bobby G, Shiryaev, Sergey A, Rymen, Daisy, Eklund, Erik A, Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E, Alehan, Fusun, Midro, Alina T, Bamshad, Michael J, Barone, Rita, Berry, Gerard T, Brumbaugh, Jane E, Buckingham, Kati J, Clarkson, Katie, Cole, F Sessions, O'Connor, Shawn, Cooper, Gregory M, Coster, Rudy, Demmer, Laurie A, Diogo, Luisa, Fay, Alexander J, Ficicioglu, Can, Fiumara, Agata, Gahl, William A, Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A, He, Miao, Jaeken, Jaak, James, Philip M, Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J, Lachlan, Katherine, Lam, Christina, Yaplito‐Lee, Joy, Nickerson, Deborah A, Peters, Heidi L, Race, Valerie, Régal, Luc, Rush, Jeffrey S, Rutledge, S Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E, Trapane, Pamela, Sanchez‐Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J, Wang, Raymond Y, Wolfe, Lynne A, Wong, Derek A, Wood, Tim, Yang, Amy C, Genomics, University of Washington Center for Mendelian, Matthijs, Gert, Freeze, Hudson H

المصدر: Human Mutation, vol 37, iss 7

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Pediatric, Clinical Research, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, Aetiology, Biomarkers, Congenital Disorders of Glycosylation, Female, Genes, Lethal, Glycosylation, Humans, Male, Mannosyltransferases, Mutation, Polysaccharides, Sequence Analysis, DNA, Survival Analysis, CDG, asparagine-linked glycosylation protein 1, carbohydrate-deficient transferrin, xeno-tetrasaccharide, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity

جغرافية الموضوع: 653 - 660

وصف الملف: application/pdf

العلاقة: qt5bt1h53p; https://escholarship.org/uc/item/5bt1h53pTest

الإتاحة: https://escholarship.org/uc/item/5bt1h53pTest