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

المؤلفون: Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R.

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100359 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.12.006Test
https://api.elsevier.com/content/article/PII:S1098360022010644?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022010644?httpAccept=text/plainTest

المؤلفون: Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.

المصدر: Cousin , M A , Veale , E L , Dsouza , N R , Tripathi , S , Holden , R G , Arelin , M , Beek , G , Bekheirnia , M R , Beygo , J , Bhambhani , V , Bialer , M , Bigoni , S , Boelman , C , Carmichael , J , Courtin , T , Cogne , B , Dabaj , I , Doummar , D , Fazilleau , L , Ferlini , A , Gavrilova , R H , Graham , J M , Haack , T B ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/ab07b83f-7838-4725-a4e2-053424a52b24Test

الإتاحة: https://doi.org/10.1186/s13073-022-01064-4Test
https://pure.eur.nl/en/publications/ab07b83f-7838-4725-a4e2-053424a52b24Test
https://pure.eur.nl/ws/files/60123421/s13073_022_01064_4.pdfTest
http://www.scopus.com/inward/record.url?scp=85131795908&partnerID=8YFLogxKTest

المؤلفون: Cousin, Margot A, Veale, Emma L, Dsouza, Nikita R, Tripathi, Swarnendu, Holden, Robyn G, Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H, Graham, John M, Haack, Tobias B, Juusola, Jane, Kant, Sarina G, Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T, Kruisselbrink, Teresa M, Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S, Leonardi, Emanuela, Lewis, Andrea M, Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide

مصطلحات موضوعية: R Medicine (General), RJ Pediatrics, RM Therapeutics. Pharmacology

وصف الملف: text

العلاقة: https://oars.uos.ac.uk/2545/1/Cousin%20et%20al%202022.pdfTest; Cousin, Margot A, Veale, Emma L, Dsouza, Nikita R, Tripathi, Swarnendu, Holden, Robyn G, Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H, Graham, John M, Haack, Tobias B, Juusola, Jane, Kant, Sarina G, Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T, Kruisselbrink, Teresa M, Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S, Leonardi, Emanuela, Lewis, Andrea M, Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K, Guillen Sacoto, Maria J, Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T, Mathie, Alistair and Klee, Eric W (2022) Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome medicine, 14 (62). pp. 1-19. ISSN 1756-994X

الإتاحة: https://doi.org/10.1186/s13073-022-01064-4Test
http://oars.uos.ac.uk/2545Test/
https://oars.uos.ac.uk/2545/1/Cousin%20et%20al%202022.pdfTest

المؤلفون: Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R.

المصدر: Genetics in Medicine ; volume 23, issue 3, page 498-507 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-020-01005-9Test
http://www.nature.com/articles/s41436-020-01005-9.pdfTest
http://www.nature.com/articles/s41436-020-01005-9Test
https://api.elsevier.com/content/article/PII:S1098360021049455?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021049455?httpAccept=text/plainTest

المؤلفون: Pinto e Vairo, Filippo, Prochnow, Carri, Kemppainen, Jennifer L., Lisi, Emily C., Steyermark, Joan M., Kruisselbrink, Teresa M., Pichurin, Pavel N., Dhamija, Rhadika, Hager, Megan M., Albadri, Sam, Cornell, Lynn D., Lazaridis, Konstantinos N., Klee, Eric W., Senum, Sarah R., El Ters, Mireille, Amer, Hatem, Baudhuin, Linnea M., Moyer, Ann M., Keddis, Mira T., Zand, Ladan, Sas, David J., Erickson, Stephen B., Fervenza, Fernando C., Lieske, John C., Harris, Peter C., Hogan, Marie C.

المساهمون: Mayo Clinic Center for Individualized Medicine, Mayo Clinic

المصدر: Kidney Medicine ; volume 3, issue 5, page 785-798 ; ISSN 2590-0595

مصطلحات موضوعية: Nephrology, Internal Medicine

الإتاحة: https://doi.org/10.1016/j.xkme.2021.04.014Test
https://api.elsevier.com/content/article/PII:S2590059521001187?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2590059521001187?httpAccept=text/plainTest

المؤلفون: Shrivastava, Sanskriti, Kruisselbrink, Teresa M., Mohananey, Akanksha, Thomas, Brittany C., Kushwaha, Sudhir S., Pereira, Naveen L.

المصدر: JACC: Case Reports ; volume 3, issue 12, page 1447-1452 ; ISSN 2666-0849

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/j.jaccas.2021.05.019Test
https://api.elsevier.com/content/article/PII:S2666084921005131?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666084921005131?httpAccept=text/plainTest

المؤلفون: Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valerie, Amram, Daniel, Boute-Benejean, Odile, Bhoj, Elizabeth, Cousin, Margot A., Kruisselbrink, Teresa M., Lanpher, Brendan C., Klee, Eric W., Fiala, Elise, Grange, Dorothy K., Meschino, Wendy S., Hiatt, Susan M., Cooper, Gregory M., Olivie, Hilde, Smith, Wendy E., Dumas, Meghan, Lehman, Anna, Adam, Shelin, du Souich, Christele, Elliott, Alison M., Mwenifumbo, Jill, Nelson, Tanya N., van Karnebeek, Clara, Friedman, Jan M., Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan S., Miramar, Dolores, Van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna C., Pajusalu, Sander, Li, Dong

المصدر: CAUSES Study , Nambot , S , Faivre , L , Mirzaa , G , Thevenon , J , Bruel , A-L , Mosca-Boidron , A-L , Masurel-Paulet , A , Goldenberg , A , Le Meur , N , Charollais , A , Mignot , C , Petit , F , Rossi , M , Metreau , J , Layet , V , Amram , D , Boute-Benejean , O , Bhoj , E , Cousin , M A , Kruisselbrink , T M , Lanpher , B C , Klee , E W , Fiala , E ....

مصطلحات موضوعية: INTELLECTUAL DISABILITY, EXPRESSION, MUTATIONS, NEUROGENESIS, PROGENITORS, NEOCORTEX, REGION, GENES, FEZF2

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/820dd60c-80e4-4740-8566-3e1639f39336Test

الإتاحة: https://doi.org/10.1038/s41431-020-0571-6Test
https://hdl.handle.net/11370/820dd60c-80e4-4740-8566-3e1639f39336Test
https://research.rug.nl/en/publications/820dd60c-80e4-4740-8566-3e1639f39336Test
https://pure.rug.nl/ws/files/132602122/Nambot_2020_De_novo_tbr_variants_cause_a_neuroc.pdfTest

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

المؤلفون: Blackburn, Patrick R., Zepeda-Mendoza, Cinthya J., Kruisselbrink, Teresa M., Schimmenti, Lisa A., García-Miñaur, Sixto, Palomares, María, Nevado, Julián, Mori, María A., Le Meur, Guylène, Klee, Eric W., Le Caignec, Cédric, Lapunzina, Pablo, Isidor, Bertrand, Babovic-Vuksanovic, Dusica

المصدر: European Journal of Human Genetics ; volume 27, issue 9, page 1379-1388 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-019-0423-4Test
http://www.nature.com/articles/s41431-019-0423-4.pdfTest
http://www.nature.com/articles/s41431-019-0423-4Test