المؤلفون: Mosbech, Mai‐Britt, Olsen, Anne S. B., Neess, Ditte, Ben‐David, Oshrit, Klitten, Laura L., Larsen, Jan, Sabers, Anne, Vissing, John, Nielsen, Jørgen E., Hasholt, Lis, Klein, Andres D., Tsoory, Michael M., Hjalgrim, Helle, Tommerup, Niels, Futerman, Anthony H., Møller, Rikke S., Færgeman, Nils J.

المصدر: Annals of Clinical and Translational Neurology ; volume 1, issue 2, page 88-98 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.28
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Facn3.28
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.28
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.28

المؤلفون: Møller, Rikke S., Weber, Yvonne G., Klitten, Laura L., Trucks, Holger, Muhle, Hiltrud, Kunz, Wolfram S., Mefford, Heather C., Franke, Andre, Kautza, Monika, Wolf, Peter, Dennig, Dieter, Schreiber, Stefan, Rückert, Ina‐Maria, Wichmann, H.‐Erich, Ernst, Jan P., Schurmann, Claudia, Grabe, Hans J., Tommerup, Niels, Stephani, Ulrich, Lerche, Holger, Hjalgrim, Helle, Helbig, Ingo, Sander, Thomas

المصدر: Epilepsia ; volume 54, issue 2, page 256-264 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/epi.12078
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fepi.12078
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.12078

المؤلفون: Klitten, Laura L., Møller, Rikke S., Nikanorova, Marina, Silahtaroglu, Asli, Hjalgrim, Helle, Tommerup, Niels

المصدر: Epilepsia ; volume 52, issue 12, page e190-e193 ; ISSN 0013-9580

الاتاحة: http://dx.doi.org/10.1111/j.1528-1167.2011.03304.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1528-1167.2011.03304.x
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2011.03304.x/fullpdf

المؤلفون: Klitten, Laura L, Møller, Rikke S, Ravn, Kirstine, Hjalgrim, Helle, Tommerup, Niels

المصدر: European Journal of Human Genetics ; volume 19, issue 1, page 1-2 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2010.149
http://www.nature.com/articles/ejhg2010149.pdf
http://www.nature.com/articles/ejhg2010149

المؤلفون: Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Neubauer, Bernd, Mörzinger, Martina, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Trucks, Holger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, Silfhout, Anneke Vulto-van

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______805::e74c7afdb66a96703aaca984fd8659ca
http://doc.rero.ch/record/291490/files/ddu306.pdf

المؤلفون: Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, Sirén, Auli

المساهمون: Neuroscience Center, Research Programs Unit, Department of Medical and Clinical Genetics, Anna-Elina Lehesjoki / Principal Investigator, Research Programme for Molecular Neurology, Medicum, Institute for Molecular Medicine Finland, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Suls, Arvid, Weckhuysen, Sarah, Claes, Godelieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Epicure Consortium, EuroEPINOMICS-CoGIE Consortium

المصدر: Epilepsy Research
Epilepsy Research, 115, 95. Elsevier
Epilepsy research
Lal, D, Steinbrücker, S, Schubert, J, Sander, T, Becker, F, Weber, Y, Lerche, H, Thiele, H, Krause, R, Lehesjoki, A-E, Nürnberg, P, Palotie, A, Neubauer, B A, Muhle, H, Stephani, U, Helbig, I, Becker, A J, Schoch, S, Hansen, J, Dorn, T, Hohl, C, Lüscher, N, von Spiczak, S, Lemke, J R, EPICURE Consortium, Møller, R S, Line Klitten, L & Hjalgrim, H 2015, ' Investigation of GRIN2A in common epilepsy phenotypes ', Epilepsy Research, vol. 115, pp. 95-99 . https://doi.org/10.1016/j.eplepsyres.2015.05.010

مصطلحات موضوعية: Pathology, Idiopathic generalized epilepsy, DEPDC5, Genotyping Techniques, CHILDHOOD, Bioinformatics, GRIN2A, 3124 Neurology and psychiatry, Cohort Studies, Epilepsy, 0302 clinical medicine, Databases, Genetic, Medicine, Copy-number variation, TERMINOLOGY, Non-U.S. Gov't, Temporal lobe epilepsy, FOCAL EPILEPSIES, Exome sequencing, Sanger sequencing, 0303 health sciences, Research Support, Non-U.S. Gov't, Phenotype, Neurology, symbols, Epilepsy, Generalized, medicine.medical_specialty, DNA Copy Number Variations, DISORDERS, Clinical Neurology, Research Support, Receptors, N-Methyl-D-Aspartate, CLASSIFICATION, Juvenile Absence Epilepsy, 03 medical and health sciences, symbols.namesake, Journal Article, Humans, Biology, 030304 developmental biology, business.industry, MUTATIONS, Copy number variation, 3112 Neurosciences, INCLUDING GRIN2A, medicine.disease, DELETIONS, Epilepsy, Absence, Epilepsy, Temporal Lobe, Epilepsy syndromes, Mutation, SEIZURES, Neurology (clinical), Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40230a95e916659f604965c70b8b6b8e
https://dspace.library.uu.nl/handle/1874/335854

المؤلفون: Duong, Linh T. T., Hoeffding, Louise K., Petersen, Kirsten B., Knudsen, Charlotte D., Thygesen, Johan H., Klitten, Laura L., Tommerup, Niels, Ingason, Andres, Werge, Thomas

المصدر: Duong , L T T , Hoeffding , L K , Petersen , K B , Knudsen , C D , Thygesen , J H , Klitten , L L , Tommerup , N , Ingason , A & Werge , T 2015 , ' Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family ' , European Journal of Medical Genetics , vol. 58 , no. 12 , pp. 650-653 . https://doi.org/10.1016/j.ejmg.2015.11.004

مصطلحات موضوعية: Deletions, 2p16.3 (NRXN1) deletion, 15q11.2 deletion, Schizophrenia, Family study, AK127244, Non-coding regions

الاتاحة: https://curis.ku.dk/portal/da/publications/two-rare-deletions-upstream-of-the-nrxn1-gene-2p163-affecting-the-noncoding-mrna-ak127244-segregate-with-diverse-psychopathological-phenotypes-in-a-family(ea53c663-ce91-411a-9313-3831bf76a2d6).html
https://doi.org/10.1016/j.ejmg.2015.11.004

المؤلفون: Berryer, Martin H, Hamdan, Fadi F, Klitten, Laura L, Møller, Rikke Steensbjerre, Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde, Lacaille, Jean-Claude, Niu, Zhiyv, Eng, Christine M, Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A, Tommerup, Niels, Immken, Ladonna, Beauchamp, Miriam H, Patel, Gayle Simpson, Majewski, Jacek, Tarnopolsky, Mark A, Scheffzek, Klaus, Hjalgrim, Helle, Michaud, Jacques L, Di Cristo, Graziella

المصدر: Berryer , M H , Hamdan , F F , Klitten , L L , Møller , R S , Carmant , L , Schwartzentruber , J , Patry , L , Dobrzeniecka , S , Rochefort , D , Neugnot-Cerioli , M , Lacaille , J-C , Niu , Z , Eng , C M , Yang , Y , Palardy , S , Belhumeur , C , Rouleau , G A , Tommerup , N , Immken , L , Beauchamp , M H , Patel , G S , Majewski , J , Tarnopolsky , M ....

مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Autistic Disorder, Blotting, Western, Child, Preschool, Cloning, Molecular, Epilepsy, Exome, Extracellular Signal-Regulated MAP Kinases, Female, HEK293 Cells, Haploinsufficiency, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Phenotype, Phosphorylation, Protein Conformation, Sequence Analysis, DNA, Transfection, ras GTPase-Activating Proteins, SYNGAP1, Autism

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/8334075e-634f-47ad-8b17-00ec987ec757
https://doi.org/10.1002/humu.22248

المؤلفون: Baumgart, Anna, Spiczak, Sarah von, Verhoeven-Duif, Nanda M., Møller, Rikke S., Boor, Rainer, Muhle, Hiltrud, Jähn, Johanna A., Klitten, Laura L., Hjalgrim, Helle, Lindhout, Dick, Stephani, Ulrich, van Kempen, Marjan J. A., Helbig, Ingo

المصدر: Journal of Child Neurology ; volume 29, issue 5, page 704-707 ; ISSN 0883-0738 1708-8283

الاتاحة: http://dx.doi.org/10.1177/0883073813505354
http://journals.sagepub.com/doi/pdf/10.1177/0883073813505354
http://journals.sagepub.com/doi/full-xml/10.1177/0883073813505354

المؤلفون: Duong, Linh, Klitten, Laura L, Møller, Rikke S, Ingason, Andrés, Jakobsen, Klaus D, Skjødt, Celina, Didriksen, Michael, Hjalgrim, Helle, Werge, Thomas, Tommerup, Niels

المصدر: Duong , L , Klitten , L L , Møller , R S , Ingason , A , Jakobsen , K D , Skjødt , C , Didriksen , M , Hjalgrim , H , Werge , T & Tommerup , N 2012 , ' Mutations in NRXN1 in a family multiply affected with brain disorders : NRXN1 mutations and brain disorders ' , American Journal of Medical Genetics Part B: Neuropsychiatric Genetics , vol. 159B , no. 3 , pp. 354-358 . https://doi.org/10.1002/ajmg.b.32036

مصطلحات موضوعية: Adult, Aged, Base Sequence, Brain Diseases, Cell Adhesion Molecules, Neuronal, Child, Preschool, DNA Mutational Analysis, Exons, Family, Female, Genetic Predisposition to Disease, Humans, Infant, Newborn, Introns, Male, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, Phenotype

Relation: https://portal.findresearcher.sdu.dk/da/publications/c3f26d87-f6d9-40b9-b459-75b6137ca0ff

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/c3f26d87-f6d9-40b9-b459-75b6137ca0ff
https://doi.org/10.1002/ajmg.b.32036

المؤلفون: Klitten, Laura L, Tommerup, Niels, Hjalgrim, Helle, Møller, Rikke S

المصدر: Klitten , L L , Tommerup , N , Hjalgrim , H & Møller , R S 2009 , ' 9q Subtelomeric deletion syndrome with diaphragmatic hernia ' , American Journal of Medical Genetics Part A , vol. 149A , no. 5 , pp. 1086-1088 . https://doi.org/10.1002/ajmg.a.32823

مصطلحات موضوعية: Chromosome Deletion, Chromosomes, Human, Pair 9, Female, Hernia, Diaphragmatic, Humans, Hypertelorism, Microcephaly, Syndrome, Telomere, Young Adult

Relation: https://portal.findresearcher.sdu.dk/da/publications/1bc66656-9838-4c12-b8e9-dc3dd04b2542

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/1bc66656-9838-4c12-b8e9-dc3dd04b2542
https://doi.org/10.1002/ajmg.a.32823

المؤلفون: Genetica Groep Koeleman, Circulatory Health, Child Health, Brain, Genetica Klinische Genetica, Lal, Dennis, Steinbrücker, Sandra, Schubert, Julian, Sander, Thomas, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Thiele, Holger, Krause, Roland, Lehesjoki, Anna Elina, Nürnberg, Peter, Palotie, Aarno, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Helbig, Ingo, Becker, Albert J., Schoch, Susanne, Hansen, Jörg, Dorn, Thomas, Hohl, Christin, Lüscher, Nicole, von Spiczak, Sarah, Lemke, Johannes R., Zimprich, Fritz, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Dyck, Tine Van, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Ostertag, Philipp, Trucks, Hol ger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Rosenow, Felix, Kapser, Claudia, Schankin, Christoph J., Koeleman, Bobby P C, de Kovel, Carolien, Lindhout, Dick, Reinthaler, Eva M., Steinboeck, Hannelore, Neo-phytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmueller, Janine, Nuernberg, Peter, Neubauer, Bernd, Sirén, Auli

URL: https://doi.org/10.1016/j.eplepsyres.2015.05.010
http://hdl.handle.net/1874/335854
https://dspace.library.uu.nl/handle/1874/335854
http://www.scopus.com/inward/record.url?scp=84955442963&partnerID=8YFLogxK
0920-1211
Epilepsy Research
115
95
99

المؤلفون: Klitten, Laura L, Rath, Martin F, Coon, Steven L, Kim, Jong-So, Klein, David C, Møller, Morten

المصدر: Klitten , L L , Rath , M F , Coon , S L , Kim , J-S , Klein , D C & Møller , M 2008 , ' Localization and regulation of dopamine receptor D4 expression in the adult and developing rat retina ' , Experimental Eye Research , vol. 87 , no. 5 , pp. 471-7 . https://doi.org/10.1016/j.exer.2008.08.004

الاتاحة: https://curis.ku.dk/portal/da/publications/localization-and-regulation-of-dopamine-receptor-d4-expression-in-the-adult-and-developing-rat-retina(c2a66b00-f902-11dd-b219-000ea68e967b).html
https://doi.org/10.1016/j.exer.2008.08.004

المؤلفون: Mosbech, Mai-Britt, Olsen, Anne S B, Neess, Ditte, Ben-David, Oshrit, Klitten, Laura L, Larsen, Jan, Sabers, Anne, Vissing, John, Nielsen, Jørgen E, Hasholt, Lis, Klein, Andres D, Tsoory, Michael M, Hjalgrim, Helle, Tommerup, Niels, Futerman, Anthony H, Møller, Rikke S, Færgeman, Nils J

المصدر: Mosbech , M-B , Olsen , A S B , Neess , D , Ben-David , O , Klitten , L L , Larsen , J , Sabers , A , Vissing , J , Nielsen , J E , Hasholt , L , Klein , A D , Tsoory , M M , Hjalgrim , H , Tommerup , N , Futerman , A H , Møller , R S & Færgeman , N J 2014 , ' Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy ' , Annals of Clinical and Translational Neurology , vol. 1 , no. 2 , pp. 88-98 .

مصطلحات الفهرس: article

URL: https://curis.ku.dk/portal/da/publications/reduced-ceramide-synthase-2-activity-causes-progressive-myoclonic-epilepsy(bdf94ca0-63c9-46a6-ac26-37601731ab1b).html
https://doi.org/10.1002/acn3.28
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4212479/

المؤلفون: Møller, Rikke S, Weber, Yvonne G, Klitten, Laura L, Trucks, Holger, Muhle, Hiltrud, Kunz, Wolfram S, Mefford, Heather C, Franke, Andre, Kautza, Monika, Wolf, Peter, Dennig, Dieter, Schreiber, Stefan, Rückert, Ina-Maria, Wichmann, H-Erich, Ernst, Jan P, Schurmann, Claudia, Grabe, Hans J, Tommerup, Niels, Stephani, Ulrich, Lerche, Holger, Hjalgrim, Helle, Helbig, Ingo, Sander, Thomas

المصدر: Møller , R S , Weber , Y G , Klitten , L L , Trucks , H , Muhle , H , Kunz , W S , Mefford , H C , Franke , A , Kautza , M , Wolf , P , Dennig , D , Schreiber , S , Rückert , I-M , Wichmann , H-E , Ernst , J P , Schurmann , C , Grabe , H J , Tommerup , N , Stephani , U , Lerche , H , Hjalgrim , H , Helbig , I , Sander , T & EPICURE Consortium 2013 , ' Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy ' , Epilepsia , vol. 54 , no. 2 , pp. 256-64 .

مصطلحات الفهرس: Adult, Age of Onset, Anticonvulsants, Case-Control Studies, Cell Adhesion Molecules, Neuronal, DNA Copy Number Variations, Electroencephalography, Epilepsy, Generalized, Exons, Family, Female, Fructose, Gene Deletion, Genotype, Humans, Infant, Male, Microarray Analysis, Middle Aged, Nerve Tissue Proteins, Neuropsychological Tests, Odds Ratio, Pedigree, Triazines, Valproic Acid, article

URL: https://curis.ku.dk/portal/da/publications/exondisrupting-deletions-of-nrxn1-in-idiopathic-generalized-epilepsy(0a401632-41f9-4d2d-8c00-8b34369b7ca9).html
https://doi.org/10.1111/epi.12078

المؤلفون: Duong, Linh, Klitten, Laura L, Møller, Rikke S, Ingason, Andrés, Jakobsen, Klaus D, Skjødt, Celina, Didriksen, Michael, Hjalgrim, Helle, Werge, Thomas, Tommerup, Niels

المصدر: Duong , L , Klitten , L L , Møller , R S , Ingason , A , Jakobsen , K D , Skjødt , C , Didriksen , M , Hjalgrim , H , Werge , T & Tommerup , N 2012 , ' Mutations in NRXN1 in a family multiply affected with brain disorders : NRXN1 mutations and brain disorders ' , American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics , vol. 159B , no. 3 , pp. 354-8 .

مصطلحات الفهرس: article

URL: https://curis.ku.dk/portal/da/publications/mutations-in-nrxn1-in-a-family-multiply-affected-with-brain-disorders(a3681db5-3a0b-4d7b-b222-e08b910ec9f8).html
https://doi.org/10.1002/ajmg.b.32036

المؤلفون: Klitten, Laura L, Møller, Rikke S, Nikanorova, Marina, Silahtaroglu, Asli, Hjalgrim, Helle, Tommerup, Niels

المصدر: Klitten , L L , Møller , R S , Nikanorova , M , Silahtaroglu , A , Hjalgrim , H & Tommerup , N 2011 , ' A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA) ' , Epilepsia-lehti , vol. 52 , no. 12 , pp. e190-3 .

مصطلحات الفهرس: Adult, Chromosomes, Human, Pair 22, Chromosomes, Human, Pair 6, Cytogenetics, Epilepsies, Myoclonic, Humans, Intellectual Disability, Male, Methacrylates, Mutation, Speech Disorders, Translocation, Genetic, ras GTPase-Activating Proteins, article

URL: https://curis.ku.dk/portal/da/publications/a-balanced-translocation-disrupts-syngap1-in-a-patient-with-intellectual-disability-speech-impairment-and-epilepsy-with-myoclonic-absences-ema(80f4e415-b515-41e1-beee-4360ff0bae74).html
https://doi.org/10.1111/j.1528-1167.2011.03304.x

المؤلفون: Klitten, Laura L, Møller, Rikke S, Ravn, Kirstine, Hjalgrim, Helle, Tommerup, Niels

المصدر: Klitten , L L , Møller , R S , Ravn , K , Hjalgrim , H & Tommerup , N 2011 , ' Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy ' , European Journal of Human Genetics , vol. 19 , no. 1 , pp. 1-2 .

مصطلحات الفهرس: Adult, Chromosome Duplication, Chromosomes, Human, X, Epilepsy, Eye Proteins, Gene Duplication, Humans, Male, Mental Retardation, Monoamine Oxidase, Nerve Tissue Proteins, article

URL: https://curis.ku.dk/portal/da/publications/duplication-of-maoa-maob-and-ndp-in-a-patient-with-mental-retardation-and-epilepsy(77157fab-7f8b-4601-b262-de628a160701).html
https://doi.org/10.1038/ejhg.2010.149

المؤلفون: Baumgart, Anna, Spiczak, Sarah von, Verhoeven-Duif, Nanda M., Møller, Rikke S., Boor, Rainer, Muhle, Hiltrud, Jähn, Johanna A., Klitten, Laura L., Hjalgrim, Helle, Lindhout, Dick, Stephani, Ulrich, van Kempen, Marjan J. A., Helbig, Ingo

المصدر: Journal of Child Neurology; May2014, Vol. 29 Issue 5, p704-707, 4p

مصطلحات موضوعية: CHILDHOOD epilepsy, VITAMIN B6 deficiency, PERINATAL death, EPILEPSY risk factors, HEPATIC encephalopathy, THERAPEUTICS

المؤلفون: Berryer, Martin H., Hamdan, Fadi F., Klitten, Laura L., Møller, Rikke S., Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot‐Cerioli, Mathilde, Lacaille, Jean‐Claude, Niu, Zhiyv, Eng, Christine M., Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A., Tommerup, Niels, Immken, LaDonna, Beauchamp, Miriam H.

المصدر: Human Mutation; Feb2013, Vol. 34 Issue 2, p385-394, 10p