المؤلفون: Wilke, Martina, Haug, Heike, Funke, Joachim

المصدر: Wilke, Martina and Haug, Heike and Funke, Joachim (2008) Risk-specific search for risk-defusing operators. [Journal (Paginated)]

مصطلحات موضوعية: Psychology: Cognitive Psychology, Cognitive Psychology

وصف الملف: application/pdf

الوصول الحر: http://cogprints.org/6628Test/

المؤلفون: Liepina, Lelde, Smith, Desiree E. C., Huidekoper, Hidde, Zeidler, Shimriet, Wamelink, Mirjam, de Wit, Marie-Claire, Wilke, Martina, Ruijter, George, Bierau, J. rgen, Blom, Henk J.

المصدر: Liepina , L , Smith , D E C , Huidekoper , H , Zeidler , S , Wamelink , M , de Wit , M-C , Wilke , M , Ruijter , G , Bierau , J R & Blom , H J 2024 , ' 5,10-methenyltetrahydrofolate synthetase deficiency : An extreme rare defect of folate metabolism in two Dutch siblings ' , JIMD Reports , vol. 65 , no. 2 , pp. 49-55 . https://doi.org/10.1002/jmd2.12409Test

العلاقة: https://research.vumc.nl/en/publications/6e05f926-f728-4feb-8ec2-1043c9856a1cTest

الإتاحة: https://doi.org/10.1002/jmd2.12409Test
https://research.vumc.nl/en/publications/6e05f926-f728-4feb-8ec2-1043c9856a1cTest
http://www.scopus.com/inward/record.url?scp=85187638328&partnerID=8YFLogxKTest

المؤلفون: Albuainain, Fatimah, Shi, Yuwei, Lor-Zade, Sarah, Hüffmeier, Ulrike, Pauly, Melissa, Reis, André, Faivre, Laurence, Maraval, Julien, Bruel, Ange Line, Them, Frédéric Tran Mau, Haack, Tobias B., Grasshoff, Ute, Horber, Veronka, Schot, Rachel, van Slegtenhorst, Marjon, Wilke, Martina, Barakat, Tahsin Stefan

المصدر: Albuainain , F , Shi , Y , Lor-Zade , S , Hüffmeier , U , Pauly , M , Reis , A , Faivre , L , Maraval , J , Bruel , A L , Them , F T M , Haack , T B , Grasshoff , U , Horber , V , Schot , R , van Slegtenhorst , M , Wilke , M & Barakat , T S 2024 , ' Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder ' , European Journal of Human Genetics , vol. 32 , no. ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/a93a40be-d95d-4721-87f8-429b9c1a21a3Test

الإتاحة: https://doi.org/10.1038/s41431-023-01530-6Test
https://pure.eur.nl/en/publications/a93a40be-d95d-4721-87f8-429b9c1a21a3Test
https://pure.eur.nl/ws/files/125601358/Confirmation_and_expansion_of_the_phenotype_of_the_TCEAL1-related_neurodevelopmental_disorder.pdfTest
http://www.scopus.com/inward/record.url?scp=85181897717&partnerID=8YFLogxKTest

المؤلفون: Diderich, Karin E.M., Klapwijk, Jasmijn E., van der Schoot, Vyne, van den Born, Myrthe, Wilke, Martina, Joosten, Marieke, Stuurman, Kyra E., Hoefsloot, Lies H., Van Opstal, Diane, Brüggenwirth, Hennie T., Srebniak, Malgorzata I.

المصدر: Diderich , K E M , Klapwijk , J E , van der Schoot , V , van den Born , M , Wilke , M , Joosten , M , Stuurman , K E , Hoefsloot , L H , Van Opstal , D , Brüggenwirth , H T & Srebniak , M I 2024 , ' Response to the comment on Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844) ' , European Journal of Medical Genetics , vol. 67 , 104884 . https://doi.org/10.1016/j.ejmg.2023.104884Test

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/9971203e-3eae-458d-a93d-21c5c5978975Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104884Test
https://pure.eur.nl/en/publications/9971203e-3eae-458d-a93d-21c5c5978975Test
https://pure.eur.nl/ws/files/120241866/Response_to_the_comment_on_Diderich_et_al._The_role_of_a_multidisciplinary_team_in_managing_variants_of_uncertain_clinical_significance_in_prenatal_genetic_diagnosis_EJMG_66_10_104844_.pdfTest
http://www.scopus.com/inward/record.url?scp=85177065122&partnerID=8YFLogxKTest

المؤلفون: Smith, Richard S, Kenny, Connor J, Ganesh, Vijay, Jang, Ahram, Borges-Monroy, Rebeca, Partlow, Jennifer N, Hill, R Sean, Shin, Taehwan, Chen, Allen Y, Doan, Ryan N, Anttonen, Anna-Kaisa, Ignatius, Jaakko, Medne, Livija, Bönnemann, Carsten G, Hecht, Jonathan L, Salonen, Oili, Barkovich, A James, Poduri, Annapurna, Wilke, Martina, de Wit, Marie Claire Y, Mancini, Grazia MS, Sztriha, Laszlo, Im, Kiho, Amrom, Dina, Andermann, Eva, Paetau, Ritva, Lehesjoki, Anna-Elina, Walsh, Christopher A, Lehtinen, Maria K

المصدر: Neuron. 99(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Pediatric, Epilepsy, Perinatal Period - Conditions Originating in Perinatal Period, Neurodegenerative, Brain Disorders, Stem Cell Research, Aetiology, Underpinning research, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Adolescent, Adult, Animals, Cell Movement, Cells, Cultured, Cerebral Cortex, Child, Child, Preschool, Female, Ferrets, HEK293 Cells, Humans, Infant, Language Development, Male, Megalencephaly, Middle Aged, NAV1.3 Voltage-Gated Sodium Channel, Pedigree, Polymicrogyria, Sodium Channels, Cortical Development, Na(V)1.1, Na(V)1.3, Oromotor, Outer Radial Glia, SCN1A, SCN3A, Speech, Voltage-Gated Sodium Channel, Psychology, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1tg2r2ggTest

المؤلفون: Fasham, James, Huebner, Antje K., Liebmann, Lutz, Khalaf-Nazzal, Reham, Maroofian, Reza, Kryeziu, Nderim, Wortmann, Saskia B., Leslie, Joseph S., Ubeyratna, Nishanka, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Wilke, Martina, Haack, Tobias B., Shamseldin, Hanan E., Gleeson, Joseph G., Almuhaizea, Mohamed, Dweikat, Imad, Abu-Libdeh, Bassam, Daana, Muhannad, Zaki, Maha S., Wakeling, Matthew N., McGavin, Lucy, Turnpenny, Peter D., Alkuraya, Fowzan S., Houlden, Henry, Schlattmann, Peter, Kaila, Kai, Crosby, Andrew H., Baple, Emma L., Hübner, Christian A.

المصدر: Fasham , J , Huebner , A K , Liebmann , L , Khalaf-Nazzal , R , Maroofian , R , Kryeziu , N , Wortmann , S B , Leslie , J S , Ubeyratna , N , Mancini , G M S , van Slegtenhorst , M , Wilke , M , Haack , T B , Shamseldin , H E , Gleeson , J G , Almuhaizea , M , Dweikat , I , Abu-Libdeh , B , Daana , M , Zaki , M S , Wakeling , M N , McGavin , L , ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/397e68a8-7ec4-4486-b3a2-2d121f649fceTest

الإتاحة: https://doi.org/10.1093/brain/awad235Test
https://pure.eur.nl/en/publications/397e68a8-7ec4-4486-b3a2-2d121f649fceTest
https://pure.eur.nl/ws/files/119321795/awad235.pdfTest
http://www.scopus.com/inward/record.url?scp=85171576785&partnerID=8YFLogxKTest

المؤلفون: Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Celeste Simon, M., de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne Sophie, Weber, Sacha, de la Fuente, Rubén Pérez, del Pozo, Jaime Sánchez, Rosales, Jose Miguel Lezana, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Mau-Them, Frédéric Tran, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A.F.

المصدر: Sheppard , S E , Bryant , L , Wickramasekara , R N , Vaccaro , C , Robertson , B , Hallgren , J , Hulen , J , Watson , C J , Faundes , V , Duffourd , Y , Lee , P , Celeste Simon , M , de la Cruz , X , Padilla , N , Flores-Mendez , M , Akizu , N , Smiler , J , Da Silva , R P , Li , D , March , M , Diaz-Rosado , A , de Barcelos , I P , Choa ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4Test

الإتاحة: https://doi.org/10.1126/sciadv.ade1463Test
https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4Test
https://pure.eur.nl/ws/files/87092930/Mechanism_of_KMT5B_haploinsufficiency_in_neurodevelopment_in_humans_and_mice.pdfTest
http://www.scopus.com/inward/record.url?scp=85150009253&partnerID=8YFLogxKTest

المؤلفون: Niggl, Eva, Bouman, Arjan, Briere, Lauren C, Hoogenboezem, Remco M, Wallaard, Ilse, Park, Joohyun, Admard, Jakob, Wilke, Martina, Harris-Mostert, Emilio D R O, Elgersma, Minetta, Balasubramanian, Meena, Banka, Siddharth, Benke, Paul J, Bertrand, Miriam, Blesson, Alyssa E, Clayton-Smith, Jill, Ellingford, Jamie M, Gillentine, Madelyn A, Goodloe, Dana H, Haack, Tobias B, Jain, Mahim, Krantz, Ian, Luu, Sharon M, McPheron, Molly, Muss, Candace L, Raible, Sarah E, Robin, Nathaniel H, Sweetser, David A, Thiffault, Isabelle, Vetrini, Francesco, Witt, Dennis, Woods, Emily, Zhou, Dihong, Elgersma, Ype, van Esbroeck, Annelot C M

المصدر: Genomics England Research Consortium , Undiagnosed Diseases Network , Niggl , E , Bouman , A , Briere , L C , Hoogenboezem , R M , Wallaard , I , Park , J , Admard , J , Wilke , M , Harris-Mostert , E D R O , Elgersma , M , Balasubramanian , M , Banka , S , Benke , P J , Bertrand , M , Blesson , A E , Clayton-Smith , J , Ellingford , J M , Gillentine , M A , Goodloe , D H , Haack , T B ....

مصطلحات موضوعية: Humans, Intellectual Disability/genetics, Alternative Splicing/genetics, Heterogeneous-Nuclear Ribonucleoprotein Group C/genetics, Haploinsufficiency/genetics, Neurodevelopmental Disorders/genetics, Heterogeneous-Nuclear Ribonucleoproteins/genetics

العلاقة: https://research.manchester.ac.uk/en/publications/20dfa96c-7935-4341-8245-a4003ce04e04Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.07.005Test
https://research.manchester.ac.uk/en/publications/20dfa96c-7935-4341-8245-a4003ce04e04Test
http://www.scopus.com/inward/record.url?scp=85166598997&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/b68f3a81-7e4e-3069-afa6-1e772c118567Test/

المؤلفون: Krausz, Csilla, Navarro-Costa, Paulo, Wilke, Martina, Tüttelmann, Frank

مصطلحات موضوعية: AZF, Y chromosome microdeletion, Azoospermia, Gr/gr deletion, Human genetics, Male infertility, Oligozoospermia, Quality control, Spermatogenesis

العلاقة: info:eu-repo/grantAgreement/FCT/3599-PPCDT/EXPL%2FMEC-AND%2F0676%2F2021/PT; https://onlinelibrary.wiley.com/journal/20472927Test; Andrology. 2023 Sep 6; http://hdl.handle.net/10451/59357Test

الإتاحة: https://doi.org/10.1111/andr.13514Test
http://hdl.handle.net/10451/59357Test

المؤلفون: Brock, Stefanie, Laquerriere, Annie, Marguet, Florent, Myers, Scott J., Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James, Shaulsky, Gil, Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent, Sacaze, Elise, de Wit, Marie C. Y., Wilke, Martina, Mancini, Grazia Maria Simonetta, Hehr, Ute, Lim, Derek, Mansour, Sahar, Traynelis, Stephen F., Beneteau, Claire, Denis-Musquer, Marie, Jansen, Anna C., Fry, Andrew E., Bahi-Buisson, Nadia

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/149235/1/Brock_GRIN_manuscript_revision1_merged.pdfTest; Brock, Stefanie, Laquerriere, Annie, Marguet, Florent, Myers, Scott J., Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James, Shaulsky, Gil, Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent, Sacaze, Elise, de Wit, Marie C. Y., Wilke, Martina, Mancini, Grazia Maria Simonetta, Hehr, Ute, Lim, Derek, Mansour, Sahar, Traynelis, Stephen F., Beneteau, Claire, Denis-Musquer, Marie, Jansen, Anna C., Fry, Andrew E. https://orca.cardiff.ac.uk/view/cardiffauthors/A126971M.htmlTest orcid:0000-0001-9778-6924 orcid:0000-0001-9778-6924 and Bahi-Buisson, Nadia 2023. Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. Journal of Medical Genetics 60 (2) , pp. 183-192. 10.1136/jmedgenet-2021-107971 https://doi.org/10.1136/jmedgenet-2021-107971Test file https://orca.cardiff.ac.uk/id/eprint/149235/1/Brock_GRIN_manuscript_revision1_merged.pdfTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-107971Test
https://orca.cardiff.ac.uk/id/eprint/149235Test/
https://orca.cardiff.ac.uk/id/eprint/149235/1/Brock_GRIN_manuscript_revision1_merged.pdfTest