المؤلفون: Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido

المصدر: Kassabian , B , Levy , A M , Gardella , E , Aledo-Serrano , A , Ananth , A L , Brea-Fernández , A J , Caumes , R , Chatron , N , Dainelli , A , De Wachter , M , Denommé-Pichon , A-S , Dye , T J , Fazzi , E , Felt , R , Fernández-Jaén , A , Fernández-Prieto , M , Gantz , E , Gasperowicz , P , Gil-Nagel , A , Gómez-Andrés , D , Greiner , H M , Guerrini , R , Haanpää , M K , ....

مصطلحات موضوعية: DEE-SWAS, epilepsy, ESES, PSD-95, SHINE syndrome

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/developmental-epileptic-encephalopathy-in-dlg4related-synaptopathy(ae9987d4-e930-4532-9603-e1f9fa3649e1).html
https://doi.org/10.1111/epi.17876
https://curis.ku.dk/ws/files/392920172/IKM_Epilepsia_2023_Kassabian_Developmental_epileptic_encephalopathy_in_DLG4_related_synaptopathy.pdf

المؤلفون: Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, de Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A. R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W. E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, Vasileiou, Georgia

المصدر: Bosch , E , Popp , B , Güse , E , Skinner , C , van der Sluijs , P J , Maystadt , I , Pinto , A M , Renieri , A , Bruno , L P , Granata , S , Marcelis , C , Baysal , Ö , Hartwich , D , Holthöfer , L , Isidor , B , Cogne , B , Wieczorek , D , Capra , V , Scala , M , de Marco , P , Ognibene , M , Jamra , R A , Platzer , K , ....

الاتاحة: https://research.vumc.nl/en/publications/47b00604-c0fa-431e-b4dc-67690fdf85b9
https://doi.org/10.1016/j.gim.2023.100950
http://www.scopus.com/inward/record.url?scp=85173555062&partnerID=8YFLogxK

المؤلفون: Umandap, Christine H., Pereira, Elaine M.

المصدر: Principles of Neonatology ; page 690-698 ; ISBN 9780323694155

الاتاحة: http://dx.doi.org/10.1016/b978-0-323-69415-5.00079-5
https://api.elsevier.com/content/article/PII:B9780323694155000795?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780323694155000795?httpAccept=text/plain

المؤلفون: Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T, Isidor, Bertrand

وصف الملف: text; spreadsheet; image

Relation: https://eprints.soton.ac.uk/469160/1/K_ry_GIM_WNK3_Main_text_Clean_07_05_2022.pdf; https://eprints.soton.ac.uk/469160/2/Final_version_May_2022_K_ry_GIM_Table_S1_23_03_2022.xlsx; https://eprints.soton.ac.uk/469160/3/Final_version_May_2022_K_ry_GIM_Table_S2_10_12_2021.xlsx; https://eprints.soton.ac.uk/469160/4/Final_version_May_2022_K_ry_GIM_WNK3_Supplementary_Figures_03_03_2022_1_.pdf; https://eprints.soton.ac.uk/469160/5/Final_version_May_2022_K_ry_GIM_WNK3_Figure_1_22_11_2021.tif; https://eprints.soton.ac.uk/469160/6/Final_version_May_2022_K_ry_GIM_WNK3_Figure_2_08_11_2021.pdf; Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T and Isidor, Bertrand (2022) Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine, 24 (9), 1941-1951. (doi:10.1016/j.gim.2022.05.009 ).

الاتاحة: https://eprints.soton.ac.uk/469160/
https://eprints.soton.ac.uk/469160/1/K_ry_GIM_WNK3_Main_text_Clean_07_05_2022.pdf
https://eprints.soton.ac.uk/469160/2/Final_version_May_2022_K_ry_GIM_Table_S1_23_03_2022.xlsx
https://eprints.soton.ac.uk/469160/3/Final_version_May_2022_K_ry_GIM_Table_S2_10_12_2021.xlsx
https://eprints.soton.ac.uk/469160/4/Final_version_May_2022_K_ry_GIM_WNK3_Supplementary_Figures_03_03_2022_1_.pdf
https://eprints.soton.ac.uk/469160/5/Final_version_May_2022_K_ry_GIM_WNK3_Figure_1_22_11_2021.tif
https://eprints.soton.ac.uk/469160/6/Final_version_May_2022_K_ry_GIM_WNK3_Figure_2_08_11_2021.pdf

المؤلفون: Platzer, Konrad, Sticht, Heinrich, Bupp, Caleb, Ganapathi, Mythily, Pereira, Elaine M., Le Guyader, Gwenaël, Bilan, Frederic, Henderson, Lindsay B., Lemke, Johannes R., Taschenberger, Holger, Wojcik, Sonja M.

Relation: Max-Planck-Institut für Multidisziplinäre Naturwissenschaften; https://resolver.sub.uni-goettingen.de/purl?gro-2/114494

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/114494
https://doi.org/10.1002/ana.26485

المؤلفون: Barua, Subit, Pereira, Elaine M., Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Levy, Brynn, Liao, Jun

المصدر: Molecular Cytogenetics ; volume 15, issue 1 ; ISSN 1755-8166

الاتاحة: http://dx.doi.org/10.1186/s13039-022-00587-0
https://link.springer.com/content/pdf/10.1186/s13039-022-00587-0.pdf
https://link.springer.com/article/10.1186/s13039-022-00587-0/fulltext.html

المؤلفون: Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C ., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2022.906077
https://www.frontiersin.org/articles/10.3389/fgene.2022.906077/full

المؤلفون: Ma, Mengqi, Ganapathi, Mythily, Zheng, Yiming, Tan, Kai-Li, Kanca, Oguz, Bove, Kevin E, Quintanilla, Norma, Sag, Sebnem O, Temel, Sehime G, LeDuc, Charles A, McPartland, Amanda J, Pereira, Elaine M, Shen, Yufeng, Hagen, Jacob, Thomas, Christie P, Nguyen Galván, Nhu Thao, Pan, Xueyang, Lu, Shenzhao, Rosenfeld, Jill A, Calame, Daniel G, Wangler, Michael F, Lupski, James R, Pehlivan, Davut, Hertel, Paula M, Chung, Wendy K, Bellen, Hugo J

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:7

مصطلحات موضوعية: Autophagy, Drosophila, Failure to thrive, Fat body, Syrian Christians of India

Relation: https://doi.org/10.1016/j.gim.2024.101125; https://pubmed.ncbi.nlm.nih.gov/38522068; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335040/

الاتاحة: https://doi.org/10.1016/j.gim.2024.101125
https://pubmed.ncbi.nlm.nih.gov/38522068
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11335040/

المؤلفون: Freiman, Andrew, Rekab, Aisha, Bergner, Amanda L., Pereira, Elaine M., Lin, Yuhuan, Ahimaz, Priyanka

المصدر: American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-11, 11p

المؤلفون: Rönkkö, Julius, Molchanova, Svetlana, Revah-Politi, Anya, Pereira, Elaine M, Auranen, Mari, Toppila, Jussi, Kvist, Jouni, Ludwig, Anastasia, Neumann, Julika, Bultynck, Geert, Humblet-Baron, Stéphanie, Liston, Adrian, Paetau, Anders, Rivera, Claudio, Harms, Matthew B, Tyynismaa, Henna, Ylikallio, Emil

مصطلحات موضوعية: Adult, Aged, Humans, Middle Aged, Young Adult, Charcot-Marie-Tooth Disease, Genes, Recessive, Heterozygote, Inositol 1,4,5-Trisphosphate Receptors, Mutation, Pedigree, Phenotype

وصف الملف: Print-Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/312889

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/312889
https://doi.org/10.17863/CAM.59986

المؤلفون: Pereira, Elaine M., Ahimaz, Priyanka, Andrews, Carli, Anyane-Yeboa, Kwame, Arsov, Todor, Berger, Sara M., Chilton, Ilana, Cory, Diana M., Chung, Wendy K., Dergham, Katia R., Disco, Michele M., Ernst, Michelle E., Forman, Tamar, Galloway, Stephanie, Geltzeiler, Alexa R., Giordano, Jessica L., Griffin, Emily, Guzman, Edwin, Harkavy, Nina, Hernan, Rebecca, Hetzler, Anah K., Iglesias, Alejandro, Kakar, Rupinder, Kentros, Catherine, Khonje, Thandiwe C., Koval, Carrie, Levinson, Elana, Robinson, Scott, Ross, Meredith J., Sadeque-Iqbal, Fatema, Spiegel, Erica, Spitz, Elana, Wapner, Ronald J.

المصدر: Genetics in Medicine ; volume 22, issue 9, page 1467-1469 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-020-0857-7
http://www.nature.com/articles/s41436-020-0857-7.pdf
http://www.nature.com/articles/s41436-020-0857-7
https://api.elsevier.com/content/article/PII:S1098360021007267?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007267?httpAccept=text/plain

المؤلفون: Khan, Wahab A., Cohen, Ninette, Scott, Stuart A., Pereira, Elaine M.

المصدر: BMC Medical Genomics ; volume 12, issue 1 ; ISSN 1755-8794

الاتاحة: http://dx.doi.org/10.1186/s12920-019-0497-4
http://link.springer.com/content/pdf/10.1186/s12920-019-0497-4.pdf
http://link.springer.com/article/10.1186/s12920-019-0497-4/fulltext.html

المؤلفون: Lu, Chang, Lee, Ting A., Pan, Debra H., Pereira, Elaine M., Zhou, Ping

المصدر: AACE Clinical Case Reports ; volume 5, issue 6, page e357-e361 ; ISSN 2376-0605

الاتاحة: http://dx.doi.org/10.4158/accr-2019-0210
https://api.elsevier.com/content/article/PII:S2376060520300353?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2376060520300353?httpAccept=text/plain

المؤلفون: Freiman, Andrew, Rekab, Aisha, Bergner, Amanda L., Pereira, Elaine M., Lin, Yuhuan, Ahimaz, Priyanka

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 4 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63502
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63502

المؤلفون: Ahimaz, Priyanka, Kramer, Tamar, Swaroop, Pooja, Mitchell, McKenzie, Hernan, Rebecca, Anyane‐Yeboa, Kwame, Pereira, Elaine M.

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 11, page 3172-3183 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62945
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62945
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62945

المؤلفون: Barua, Subit, Berger, Sara, Pereira, Elaine M., Jobanputra, Vaidehi

المصدر: Cold Spring Harbor Molecular Case Studies; Jun2022, Vol. 8 Issue 4, p1-11, 11p

مصطلحات موضوعية: PROTON pumps (Biology), ADENOSINE triphosphate, EUKARYOTIC cells, NEUROLOGIC manifestations of general diseases, CONGENITAL disorders

المؤلفون: Shayegan, Leila H., Garzon, Maria C., Morel, Kimberly D., Borlack, Rachel, Vuguin, Patricia M., Margolis, Kara G., Demirdag, Yesim Y., Pereira, Elaine M., Lauren, Christine T.

المصدر: Pediatric Dermatology ; volume 37, issue 4, page 695-697 ; ISSN 0736-8046 1525-1470

الاتاحة: http://dx.doi.org/10.1111/pde.14173
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fpde.14173
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14173
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/pde.14173

المؤلفون: Lin, Angela E., Alali, Abdulrazak, Starr, Lois J., Shah, Nidhi, Beavis, Anna, Pereira, Elaine M., Lindsay, Mark E., Klugman, Susan

المصدر: American Journal of Medical Genetics Part A ; volume 182, issue 2, page 328-337 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.61430
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.61430
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61430
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.61430

المؤلفون: Lin, Angela E., Alali, Abdulrazak, Starr, Lois J., Shah, Nidhi, Beavis, Anna, Pereira, Elaine M., Lindsay, Mark E., Klugman, Susan

المصدر: American Journal of Medical Genetics. Part A; Feb2020, Vol. 182 Issue 2, p328-337, 10p

المؤلفون: Ma, Mengqi, Ganapathi, Mythily, Zheng, Yiming, Tan, Kai-Li, Kanca, Oguz, Bove, Kevin E., Quintanilla, Norma, Sag, Sebnem O., Temel, Sehime G., LeDuc, Charles A., McPartland, Amanda J., Pereira, Elaine M., Shen, Yufeng, Hagen, Jacob, Thomas, Christie P., Galván, Nhu Thao Nguyen, Pan, Xueyang, Lu, Shenzhao, Rosenfeld, Jill A., Calame, Daniel G., Wangler, Michael F., Lupski, James R., Pehlivan, Davut, Hertel, Paula M., Chung, Wendy K., Bellen, Hugo J.

المصدر: Genetics in Medicine; 20240101, Issue: Preprints