المؤلفون: Ebstein, Frédéric, Küry, Sébastien, Most, Victoria, Rosenfelt, Cory, Scott-Boyer, Marie Pier, van Woerden, Geeske M., Besnard, Thomas, Papendorf, Jonas Johannes, Studencka-Turski, Maja, Wang, Tianyun, Hsieh, Tzung Chien, Golnik, Richard, Baldridge, Dustin, Forster, Cara, de Konink, Charlotte, Teurlings, Selina M.W., Vignard, Virginie, van Jaarsveld, Richard H., Ades, Lesley, Cogné, Benjamin, Mignot, Cyril, Deb, Wallid, Jongmans, Marjolijn C.J., Cole, F. Sessions, van den Boogaard, Marie José H., Wambach, Jennifer A., Wegner, Daniel J., Yang, Sandra, Hannig, Vickie, Brault, Jennifer Ann, Zadeh, Neda, Bennetts, Bruce, Keren, Boris, Gélineau, Anne Claire, Powis, Zöe, Towne, Meghan, Bachman, Kristine, Seeley, Andrea, Beck, Anita E., Morrison, Jennifer, Westman, Rachel, Averill, Kelly, Brunet, Theresa, Haasters, Judith, Carter, Melissa T., Osmond, Matthew, Wheeler, Patricia G., Forzano, Francesca, Mohammed, Shehla, Trakadis, Yannis, Accogli, Andrea, Harrison, Rachel, Guo, Yiran, Hakonarson, Hakon, Rondeau, Sophie, Baujat, Geneviève, Barcia, Giulia, Feichtinger, René Günther, Mayr, Johannes Adalbert, Preisel, Martin, Laumonnier, Frédéric, Kallinich, Tilmann, Knaus, Alexej, Isidor, Bertrand, Krawitz, Peter, Völker, Uwe, Hammer, Elke, Droit, Arnaud, Eichler, Evan E., Elgersma, Ype, Hildebrand, Peter W., Bolduc, François, Krüger, Elke, Bézieau, Stéphane

المصدر: Ebstein , F , Küry , S , Most , V , Rosenfelt , C , Scott-Boyer , M P , van Woerden , G M , Besnard , T , Papendorf , J J , Studencka-Turski , M , Wang , T , Hsieh , T C , Golnik , R , Baldridge , D , Forster , C , de Konink , C , Teurlings , S M W , Vignard , V , van Jaarsveld , R H , Ades , L , Cogné , B , Mignot , C , Deb , W , Jongmans ....

الاتاحة: https://pure.eur.nl/en/publications/973c347c-0f5a-4991-9d1b-ee61f400caeb
https://doi.org/10.1126/scitranslmed.abo3189
http://www.scopus.com/inward/record.url?scp=85160799341&partnerID=8YFLogxK
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506367/pdf/nihms-1919500.pdf

المؤلفون: Kim, Jung-Hyun, Shinde, Deepali N, Reijnders, Margot RF, Hauser, Natalie S, Belmonte, Rebecca L, Wilson, Gregory R, Bosch, Daniëlle GM, Bubulya, Paula A, Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K, Park, Eun Young, Veltman, Joris A, Sinnema, Margje, Stumpel, Connie TRM, Draaisma, Jos M, Nicolai, Joost, Genomics, University of Washington Center for Mendelian, Yntema, Helger G, Lindstrom, Kristin, de Vries, Bert BA, Jewett, Tamison, Santoro, Stephanie L, Vogt, Julie, Study, Deciphering Developmental Disorders, Bachman, Kristine K, Seeley, Andrea H, Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M, Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A, Behunova, Jana, Rehder, Helga, Gordon, Christopher T, Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T, McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander PA, Stevens, Servi JC, Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G, Brunner, Han G, Mancini, Grazia M, Myers, Richard M, Owen, Laurie B, Lim, Ssang-Taek, Stachura, David L, Vissers, Lisenka ELM, Ahn, Eun-Young Erin

المصدر: American Journal of Human Genetics. 99(3)

مصطلحات موضوعية: Brain Disorders, Congenital Structural Anomalies, Neurosciences, Mental Health, Clinical Research, Genetics, Pediatric, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Congenital, Animals, Brain, DNA-Binding Proteins, Developmental Disabilities, Eye Abnormalities, Female, Genes, Essential, Haploinsufficiency, Head, Heterozygote, Humans, Intellectual Disability, Male, Metabolic Diseases, Minor Histocompatibility Antigens, Mutation, Pedigree, RNA Splicing, RNA, Messenger, Spine, Syndrome, Zebrafish, University of Washington Center for Mendelian Genomics, Deciphering Developmental Disorders Study, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

URL الوصول: https://escholarship.org/uc/item/27g3h88z

المؤلفون: Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Kremlikova Pourova, Radka, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine, Seeley, Andrea H., Costakos, Deborah, Glaser, Thomas M, Levin, Alex V., Liskova, Petra, Murray, Jeffrey C., Semina, Elena V.

المساهمون: National Eye Institute, National Institutes of Health

المصدر: Journal of Medical Genetics ; volume 60, issue 4, page 368-379 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg-2022-108646
https://syndication.highwire.org/content/doi/10.1136/jmg-2022-108646

المؤلفون: Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S.C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, van Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M.S., Madan-Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz-Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla

المصدر: Ernst , M E , Baugh , E H , Thomas , A , Bier , L , Lippa , N , Stong , N , Mulhern , M S , Kushary , S , Akman , C I , Heinzen , E L , Yeh , R , Bi , W , Hanchard , N A , Burrage , L C , Leduc , M S , Chong , J S C , Bend , R , Lyons , M J , Lee , J A , Suwannarat , P , Brilstra , E , Simon , M ....

الاتاحة: https://pure.eur.nl/en/publications/397106a8-1886-4437-9d53-67a1bb04cf25
https://doi.org/10.1111/epi.16931
http://www.scopus.com/inward/record.url?scp=85106479938&partnerID=8YFLogxK
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9189716/

المؤلفون: Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, Cancer, Child Health, Ebstein, Frédéric, Küry, Sébastien, Most, Victoria, Rosenfelt, Cory, Scott-Boyer, Marie-Pier, van Woerden, Geeske M, Besnard, Thomas, Papendorf, Jonas Johannes, Studencka-Turski, Maja, Wang, Tianyun, Hsieh, Tzung-Chien, Golnik, Richard, Baldridge, Dustin, Forster, Cara, de Konink, Charlotte, Teurlings, Selina M W, Vignard, Virginie, van Jaarsveld, Richard H, Ades, Lesley, Cogné, Benjamin, Mignot, Cyril, Deb, Wallid, Jongmans, Marjolijn C J, Cole, F Sessions, van den Boogaard, Marie-José H, Wambach, Jennifer A, Wegner, Daniel J, Yang, Sandra, Hannig, Vickie, Brault, Jennifer Ann, Zadeh, Neda, Bennetts, Bruce, Keren, Boris, Gélineau, Anne-Claire, Powis, Zöe, Towne, Meghan, Bachman, Kristine, Seeley, Andrea, Beck, Anita E, Morrison, Jennifer, Westman, Rachel, Averill, Kelly, Brunet, Theresa, Haasters, Judith, Carter, Melissa T, Osmond, Matthew, Wheeler, Patricia G, Forzano, Francesca, Mohammed, Shehla, Trakadis, Yannis, Accogli, Andrea, Harrison, Rachel, Guo, Yiran, Hakonarson, Hakon, Rondeau, Sophie, Baujat, Geneviève, Barcia, Giulia, Feichtinger, René Günther, Mayr, Johannes Adalbert, Preisel, Martin, Laumonnier, Frédéric, Kallinich, Tilmann, Knaus, Alexej, Isidor, Bertrand, Krawitz, Peter, Völker, Uwe, Hammer, Elke, Droit, Arnaud, Eichler, Evan E, Elgersma, Ype, Hildebrand, Peter W, Bolduc, François, Krüger, Elke, Bézieau, Stéphane

URL: https://doi.org/10.1126/scitranslmed.abo3189
http://hdl.handle.net/1874/449716
http://www.scopus.com/inward/record.url?scp=85160799341&partnerID=8YFLogxK
1946-6234
Science translational medicine
15
698
eabo3189

المؤلفون: Balak, Chris, Bénard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, M., Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maïté, Naymik, Marcus, Bachman, Kristine, K, Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid, M, Monaghan, Kristin, G, Mcwalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, de Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio, S, Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, D., Piton, Amélie

المساهمون: Laboratoire de Biologie du Développement IBPS (LBD), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Human Genetics, Radboud University Medical Center Nijmegen (RadboudUMC), GeneDx Gaithersburg, MD, USA, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Les Hôpitaux Universitaires de Strasbourg (HUS), Cologne Center for Genomics, Universität zu Köln = University of Cologne, ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: DDX6, DEAD-box, DExD/H-box, RNA helicase, RecA domain, helicase, intellectual disability, mRNA metabolism, missense variants, neurodevelopmental disorder, p-bodies, processing bodies, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/31422817; PUBMED: 31422817; PUBMEDCENTRAL: PMC6731366

الاتاحة: https://hal.science/hal-02271087
https://hal.science/hal-02271087v1/document
https://hal.science/hal-02271087v1/file/Balak%202019%20pour%20HAL.pdf
https://doi.org/10.1016/j.ajhg.2019.07.010

المؤلفون: Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin

المساهمون: US, National Institutes of Health, University of South Alabama, Canadian Child Health Clinician Scientist Program, CCHCSP

المصدر: Kidney International ; volume 95, issue 6, page 1494-1504 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1016/j.kint.2019.01.025
https://api.elsevier.com/content/article/PII:S008525381930167X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S008525381930167X?httpAccept=text/plain

المؤلفون: Ziats, Mark N., Goin-Kochel, Robin P., Berry, Leandra N., Ali, May, Ge, Jun, Guffey, Danielle, Rosenfeld, Jill A., Bader, Patricia, Gambello, Michael J., Wolf, Varina, Penney, Lynette S., Miller, Ryan, Lebel, Robert Roger, Kane, Jeffrey, Bachman, Kristine, Troxell, Robin, Clark, Gary, Minard, Charles G., Stankiewicz, Pawel, Beaudet, Arthur, Schaaf, Christian P.

المصدر: Genetics in Medicine ; volume 18, issue 11, page 1111-1118 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2016.9
http://www.nature.com/articles/gim20169.pdf
http://www.nature.com/articles/gim20169
https://api.elsevier.com/content/article/PII:S1098360021013976?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021013976?httpAccept=text/plain
http://www.nature.com/doifinder/10.1038/gim.2016.9

المؤلفون: Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Pourova, Radka Kremlikova, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine

المصدر: Journal of Medical Genetics; Apr2023, Vol. 60 Issue 4, p368-379, 34p

المؤلفون: Ernst, Michelle E, Baugh, Evan H, Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S, Kushary, Sulagna, Akman, Cigdem I, Heinzen, Erin L, Yeh, Raymond, Bi, Weimin, Hanchard, Neil A, Burrage, Lindsay C, Leduc, Magalie S, Chong, Josephine S C, Bend, Renee, Lyons, Michael J, Lee, Jennifer A, Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, van Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M S, Madan-Khetarpal, Suneeta, Infante, Elena M, Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W, Schultz-Rogers, Laura E, Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S, Ferber, Matthew J, Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M, Pais, Lynn, Monaghan, Kristin G, Goldstein, David B, Sands, Tristan T, Aggarwal, Vimla

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

مصطلحات موضوعية: CK2, CSNK2A1, MSNE, casein kinase II, generalized epilepsy, myoclonic seizures, myoclonicstatus epilepticus, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/443058

الاتاحة: https://dspace.library.uu.nl/handle/1874/443058

المؤلفون: Genetica Klinische Genetica, Brain, Genetica Sectie Genoomdiagnostiek, Child Health, Ernst, Michelle E, Baugh, Evan H, Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S, Kushary, Sulagna, Akman, Cigdem I, Heinzen, Erin L, Yeh, Raymond, Bi, Weimin, Hanchard, Neil A, Burrage, Lindsay C, Leduc, Magalie S, Chong, Josephine S C, Bend, Renee, Lyons, Michael J, Lee, Jennifer A, Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, van Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M S, Madan-Khetarpal, Suneeta, Infante, Elena M, Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W, Schultz-Rogers, Laura E, Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S, Ferber, Matthew J, Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M, Pais, Lynn, Monaghan, Kristin G, Goldstein, David B, Sands, Tristan T, Aggarwal, Vimla

URL: https://doi.org/10.1111/epi.16931
http://hdl.handle.net/1874/443058
https://dspace.library.uu.nl/handle/1874/443058
0013-9580
Epilepsia
62
7
e103
e109

المؤلفون: Bachman, Kristine K., DeWard, Stephanie J., Chrysostomou, Constantinos, Munoz, Ricardo, Madan-Khetarpal, Suneeta

المصدر: Cardiology in the Young ; volume 25, issue 1, page 115-122 ; ISSN 1047-9511 1467-1107

الاتاحة: http://dx.doi.org/10.1017/s1047951113001868
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S1047951113001868

المؤلفون: Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin

المصدر: Kidney International; June 2019, Vol. 95 Issue: 6 p1494-1504, 11p

المؤلفون: Bachman, Kristine

مصطلحات الفهرس: University of Pittsburgh ETD, PeerReviewed

URL: http://d-scholarship.pitt.edu/11685/1/Final_Thesis_Bachman_4.19.2012.pdf
http://worldcat.org/search?q=on:PIT+http://d-scholarship.pitt.edu/cgi/oai2+DCG_ENTIRE_REPOSITORY+CNTCOLL
http://d-scholarship.pitt.edu/11685/
http://d-scholarship.pitt.edu/11685

المؤلفون: Bachman, Kristine K., DeWard, Stephanie J., Chrysostomou, Constantinos, Munoz, Ricardo, Madan-Khetarpal, Suneeta

المصدر: Cardiology in the Young; Jan2015, Vol. 25 Issue 1, p115-122, 8p