المؤلفون: Blok, Lot Snijders, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot RF, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T, Hoischen, Alexander, Vissers, Lisenka ELM, Koemans, Tom S, Wissink-Lindhout, Willemijn, Eichler, Evan E, Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje WM, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L, Van Dijck, Anke, Innes, A Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J, Henderson, Alex, Lynch, Sally A, Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Study, the DDD, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen LI, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L, Pediaditakis, Igor, Haas, Stefan A, Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G, Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C, Stein, Quinn, Strauss, Kevin A, Brigatti, Karlla W, Keating, Katherine, Burton, Barbara K, Kim, Katherine H, Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D, Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M, van Roozendaal, Kees, Brunner, Han, Chung, Wendy K, Kooy, R Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G, Katsanis, Nicholas, Kleefstra, Tjitske

المصدر: American Journal of Human Genetics. 97(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Intellectual and Developmental Disabilities (IDD), Human Genome, Clinical Research, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Amino Acid Substitution, Animals, Base Sequence, DEAD-box RNA Helicases, Embryo, Nonmammalian, Exome, Female, Gene Dosage, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Sequence Analysis, DNA, Sex Characteristics, Wnt Signaling Pathway, Zebrafish, DDD Study, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7z24v4hn

المؤلفون: Vulto-van Silfhout, Anneke T, Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A, Hu, Hao, Bienek, Melanie, Vissers, Lisenka ELM, Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B, Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K, Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M, Yntema, Helger G, Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert BA, Brunner, Han G, van Bokhoven, Hans, Raymond, F Lucy, Willemsen, Michèl AAP, Chelly, Jamel, Xiong, Yue, Barkovich, A James, Kalscheuer, Vera M, Kleefstra, Tjitske, de Brouwer, Arjan PM

المصدر: Human Mutation. 36(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Pediatric, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Brain, Cell Cycle Proteins, Cells, Cultured, Child, Child, Preschool, Cullin Proteins, Genetic Association Studies, HEK293 Cells, Humans, Infant, Male, Malformations of Cortical Development, Mental Retardation, X-Linked, Middle Aged, Nerve Tissue Proteins, Pedigree, Sequence Analysis, DNA, Young Adult, CUL4B, WDR62, cortical dysplasia, hydrocephalus, intellectual disability, mutation, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7h5466vk

المؤلفون: Kalscheuer, Vera M, James, Victoria M, Himelright, Miranda L, Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A, Topf, Maya, Hoogeboom, A Jeannette M, Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J

المساهمون: Genetica Klinische Genetica

مصطلحات موضوعية: ArfGEF, BRAG1, IQ-ArfGEF, IQSEC2, MRX78, XLID, Journal Article

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/335834

الاتاحة: https://dspace.library.uu.nl/handle/1874/335834

المؤلفون: Kalscheuer, Vera M., James, Victoria M., Himelright, Miranda L., Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A., Topf, Maya, Hoogeboom, A. Jeannette M., Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J.

المساهمون: Medical Research Council, Seventh Framework Programme, Whitehall Foundation

المصدر: Frontiers in Molecular Neuroscience ; volume 8 ; ISSN 1662-5099

الاتاحة: http://dx.doi.org/10.3389/fnmol.2015.00085
https://www.frontiersin.org/article/10.3389/fnmol.2015.00085/full

المؤلفون: Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R F, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E L M, Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, Van Bon, Bregje W M, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, Van gassen, Koen L I, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., Van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske

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

مصطلحات موضوعية: Genetics, Genetics(clinical), Case Reports, Journal Article, Research Support, N.I.H., Extramural, Non-U.S. Gov't

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/331678

الاتاحة: https://dspace.library.uu.nl/handle/1874/331678

المؤلفون: Kumar, Raman, Corbett, Mark A., Van Bon, Bregje W.M., Gardner, Alison, Woenig, Joshua A., Jolly, Lachlan A., Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, Martine, Field, Michael, Leffler, Melanie, Budny, Bartłomiej, Wisniewska, Marzena, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Batanian, Jacqueline, Rosenfeld, Jill A., Basel-Vanagaite, Lina, Jensen, Corinna, Bienek, Melanie, Froyen, Guy, Ullmann, Reinhard, Hu, Hao, Love, Michael I., Haas, Stefan A., Stankiewicz, Pawel, Cheung, Sau Wai, Baxendale, Anne, Nicholl, Jillian, Thompson, Elizabeth M., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef

المساهمون: Channel 7 Children's Research Foundation, MS McLeod Research Fellowship, WCH Foundation, EU FP7 project GENCODYS

المصدر: Human Molecular Genetics ; volume 24, issue 25, page 7171-7181 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddv414
http://academic.oup.com/hmg/article-pdf/24/25/7171/17262245/ddv414.pdf

المؤلفون: Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew F., Hackett, Anna, Field, Michael, Palmer, Elizabeth E., Leffler, Melanie, Rogers, Carolyn, Boyle, Jackie, Bienek, Melanie, Jensen, Corinna, Van Buggenhout, Griet, Van Esch, Hilde, Hoffmann, Katrin, Raynaud, Martine, Zhao, Huiying, Reed, Robin, Hu, Hao, Haas, Stefan A., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef

المصدر: The American Journal of Human Genetics ; volume 97, issue 2, page 302-310 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2015.05.021
https://api.elsevier.com/content/article/PII:S0002929715002359?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929715002359?httpAccept=text/plain

المؤلفون: Willemsen, Marjolein H, Ba, Wei, Wissink-Lindhout, Willemijn M, de Brouwer, Arjan P M, Haas, Stefan A, Bienek, Melanie, Hu, Hao, Vissers, Lisenka E L M, van Bokhoven, Hans, Kalscheuer, Vera, Nadif Kasri, Nael, Kleefstra, Tjitske

المصدر: Journal of Medical Genetics ; volume 51, issue 7, page 487-494 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmedgenet-2013-102182
https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2013-102182

المؤلفون: Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.

المصدر: The American Journal of Human Genetics ; volume 92, issue 5, page 681-695 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2013.03.021
https://api.elsevier.com/content/article/PII:S0002929713001298?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929713001298?httpAccept=text/plain

المؤلفون: Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei

المصدر: The HUGO Journal ; volume 3, issue 1-4, page 83-83 ; ISSN 1877-6558 1877-6566

الاتاحة: https://doi.org/10.1007/s11568-010-9142-1
https://link.springer.com/content/pdf/10.1007/s11568-010-9142-1.pdf
https://link.springer.com/article/10.1007/s11568-010-9142-1/fulltext.html
http://link.springer.com/content/pdf/10.1007/s11568-010-9142-1

المؤلفون: Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei

المصدر: The HUGO Journal ; volume 3, issue 1-4, page 41-49 ; ISSN 1877-6558 1877-6566

الاتاحة: http://dx.doi.org/10.1007/s11568-010-9137-y
https://link.springer.com/content/pdf/10.1007/s11568-010-9137-y.pdf
https://link.springer.com/article/10.1007/s11568-010-9137-y/fulltext.html
http://link.springer.com/content/pdf/10.1007/s11568-010-9137-y

المؤلفون: Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M., Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, AltmÃ1⁄4ller, Janine, Krause, Roland, May, Patrick, Becker, Felicitas, Balling, Rudi, Biskup, Saskia, Haas, Stefan A., NÃ1⁄4rnberg, Peter, van Gassen, Koen L. I, Lerche, Holger, Zara, Federico, Maljevic, Snezana, Leshinsky-Silver, Esther

المساهمون: Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M., Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmã1⁄4ller, Janine, Krause, Roland, May, Patrick, Becker, Felicita, Balling, Rudi, Biskup, Saskia, Haas, Stefan A., Nã1⁄4rnberg, Peter, van Gassen, Koen L. I, Lerche, Holger, Zara, Federico, Maljevic, Snezana, Leshinsky-Silver, Esther

مصطلحات موضوعية: epilepsy, intellectual disability, neuronal inhibition, X-linked disease, Adolescent, Adult, Animal, Brain Disease, Child, Preschool, Cleft Palate, Developmental Disabilitie, Female, Genetic Variation, Human, Male, Microcephaly, Mutagenesis, Site-Directed, Nystagmus, Pathologic, Oocyte, Patch-Clamp Technique, Pedigree, Receptors, GABA-A, Syndrome, Xenopus laevi, Young Adult, gamma-Aminobutyric Acid

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29053855; info:eu-repo/semantics/altIdentifier/wos/WOS:000414357800019; volume:140; firstpage:2879; lastpage:2894; numberofpages:16; journal:BRAIN; http://hdl.handle.net/11567/883493; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032979189

الاتاحة: http://hdl.handle.net/11567/883493
https://doi.org/10.1093/brain/awx236

المؤلفون: Poznański, Jarosław, Charzewska, Agnieszka, Hoffman-Zacharska, Dorota, Bal, Jerzy, Nawara, Magdalena Melisa, Obersztyn, Ewa, Gos, Monika, Chilarska, Tatiana, Kahrizi, Kimia, Enders, Hendrik, Maiwald, Robert, Oehl-Jaschkowitz, Barbara, Dufke, Andreas, Lemke, Johannes R., Najmabadi, Hossein, Tzschach, Andreas, Hachmann, Wiebke, Jensen, Corinna, Bienek, Melanie, Kalscheuer, Vera M.

مصطلحات موضوعية: FG syndrome, Lujan-Fryns syndrome, MED12, Ohdo syndrome, X-linked intellectual disability, molecular modeling

Relation: Clinical Genetics; 450-456; https://repozytorium.uw.edu.pl//handle/item/122883

الاتاحة: https://repozytorium.uw.edu.pl//handle/item/122883
https://doi.org/10.1111/CGE.13412

المؤلفون: Genetica, Genetica Klinische Genetica, Child Health, Brain, Genetica Sectie Genoomdiagnostiek, Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M, Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale, Nawara, Magdalena, Rzoca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmüller, Janine, Krause, Roland, May, Patrick, Becker, Felicitas, Balling, Rudi, Biskup, Saskia, Haas, Stefan A., Nürnberg, Peter, Van Gassen, Koen L.I., Lerche, Holger, Zara, Federico, Maljevic, Snezana, Leshinsky-Silver, Esther

URL: https://doi.org/10.1093/brain/awx236
http://hdl.handle.net/1874/357962
https://dspace.library.uu.nl/handle/1874/357962
http://www.scopus.com/inward/record.url?scp=85032979189&partnerID=8YFLogxK
0006-8950
Brain
140
11
2879
2894

المؤلفون: Vulto-van Silfhout, Anneke T., Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A., Hu, Hao, Bienek, Melanie, Vissers, Lisenka E.L.M., Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B., Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K., Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M., Yntema, Helger G., Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert B.A., Brunner, Han G., van Bokhoven, Hans, Raymond, F. Lucy, Willemsen, Michèl A.A.P., Chelly, Jamel, Xiong, Yue, Barkovich, A. James, Kalscheuer, Vera M., Kleefstra, Tjitske, de Brouwer, Arjan P.M.

المساهمون: Department of human genetics, Radboud University Medical Center Nijmegen -Nijmegen Centre for Molecular Life Sciences-Institute for Genetic and Metabolic Disorders, Service de Neuropédiatrie, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Human Genetics, Radboud University Medical Center Nijmegen, Human Molecular Genetics, Department of Anatomy, Embryology, Physiology, Muscle et pathologies, Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute of Medical Genetics, Universität Zürich Zürich = University of Zurich (UZH), Dpt of Operative Dentistry, Section of Periodontology, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Clinique CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institute for Infectiology (IMED), Friedrich-Loeffler-Institut (FLI), 849 Department of Human Genetics, Department of Genetics, Department of Medical and Clinical Genetics Helsinki, Haartman Institute Helsinki, Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine Helsinki, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Department of Human Genetics, 907-00-365, Netherlands Organisation for Health Research and Development, FP7 241995, European Commission, GM067113, Foundation for the National Institutes of Health, 2009(2)-81, Dutch Brain Foundation, German ministry of education and researech (MRNET), max planck innovation funds, NN407133739, Polish Ministry of Science and Higher Education, Sigrid Julius foundation, van Leersum fonds

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: mutation, intellectual disability, hydrocephalus, cortical dysplasia, WDR62, CUL4B, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/25385192; hal-01116441; https://univ-rennes.hal.science/hal-01116441; PUBMED: 25385192; PUBMEDCENTRAL: PMC4608231

الاتاحة: https://univ-rennes.hal.science/hal-01116441
https://doi.org/10.1002/humu.22718

المؤلفون: Kumar, Raman, Corbett, Mark A, van Bon, Bregje W M, Gardner, Alison, Woenig, Joshua A, Jolly, Lachlan A, Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, Martine, Field, Michael, Leffler, Melanie, Budny, Bartłomiej, Wisniewska, Marzena, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Batanian, Jacqueline, Rosenfeld, Jill A, Basel-Vanagaite, Lina, Jensen, Corinna, Bienek, Melanie, Froyen, Guy, Ullmann, Reinhard, Hu, Hao, Love, Michael I, Haas, Stefan A, Stankiewicz, Pawel, Cheung, Sau Wai, Baxendale, Anne, Nicholl, Jillian, Thompson, Elizabeth M, Haan, Eric, Kalscheuer, Vera M, Gecz, Jozef

وصف الملف: 1037243 bytes; application/pdf

Relation: Human Molecular Genetics vol:24 issue:25 pages:7171-81; https://lirias.kuleuven.be/handle/123456789/511133; http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=26443594; https://lirias.kuleuven.be/bitstream/123456789/511133/1//Kumar+Hum+Mol+Genet+2015.pdf

الاتاحة: https://lirias.kuleuven.be/handle/123456789/511133
http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=26443594
https://lirias.kuleuven.be/bitstream/123456789/511133/1//Kumar+Hum+Mol+Genet+2015.pdf

المؤلفون: Genetica Klinische Genetica, Kalscheuer, Vera M, James, Victoria M, Himelright, Miranda L, Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A, Topf, Maya, Hoogeboom, A Jeannette M, Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J

URL: https://doi.org/10.3389/fnmol.2015.00085
http://hdl.handle.net/1874/335834
https://dspace.library.uu.nl/handle/1874/335834
1662-5099
Frontiers in Molecular Neuroscience [E]
8
85

المؤلفون: Najmabadi, Hossein, Hu, Hao, Garshasbi, Masoud, Zemojtel, Tomasz, Abedini, Seyedeh Sedigheh, Chen, Wei, Hosseini, Masoumeh, Behjati, Farkhondeh, Haas, Stefan, Jamali, Payman, Zecha, Agnes, Mohseni, Marzieh, Püttmann, Lucia, Vahid, Leyla Nouri, Jensen, Corinna, Moheb, Lia Abbasi, Bienek, Melanie, Larti, Farzaneh, Mueller, Ines, Weissmann, Robert, Darvish, Hossein, Wrogemann, Klaus, Hadavi, Valeh, Lipkowitz, Bettina, Esmaeeli-Nieh, Sahar, Wieczorek, Dagmar, Kariminejad, Roxana, Firouzabadi, Saghar Ghasemi, Cohen, Monika, Fattahi, Zohreh, Rost, Imma, Mojahedi, Faezeh, Hertzberg, Christoph, Dehghan, Atefeh, Rajab, Anna, Banavandi, Mohammad Javad Soltani, Hoffer, Julia, Falah, Masoumeh, Musante, Luciana, Kalscheuer, Vera, Ullmann, Reinhard, Kuss, Andreas Walter, Tzschach, Andreas, Kahrizi, Kimia, Ropers, H. Hilger

المصدر: Nature ; volume 478, issue 7367, page 57-63 ; ISSN 0028-0836 1476-4687

الاتاحة: http://dx.doi.org/10.1038/nature10423
http://www.nature.com/articles/nature10423.pdf
http://www.nature.com/articles/nature10423

المؤلفون: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R F, Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E L M, Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, Van Bon, Bregje W M, Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, Van gassen, Koen L I, Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., Van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske

URL: https://doi.org/10.1016/j.ajhg.2015.07.004
http://hdl.handle.net/1874/331678
http://www.scopus.com/inward/record.url?scp=84938978665&partnerID=8YFLogxK
0002-9297
American Journal of Human Genetics
97
2
343
352

المؤلفون: Willemsen, Marjolein H., Wei Ba, Wissink-Lindhout, Willemijn M., de Brouwer, Arjan P. M., Haas, Stefan A., Bienek, Melanie, Hao Hu, Vissers, Lisenka E. L. M., van Bokhoven, Hans, Kalscheuer, Vera, Kasri, Nael Nadif, Kleefstra, Tjitske

المصدر: Journal of Medical Genetics; Jul2014, Vol. 51 Issue 7, p487-494, 8p

مصطلحات موضوعية: KINESIN, SYNAPSES, GENES, ADENOSINE triphosphatase, NERVE endings