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1Academic Journal
المؤلفون: Michaela Omelková, Christina Dühring Fenger, Marta Murray, Trine Bjørg Hammer, Veronica M. Pravata, Sergio Galan Bartual, Ignacy Czajewski, Allan Bayat, Andrew T. Ferenbach, Marios P. Stavridis, Daan M. F. van Aalten
المصدر: Disease Models & Mechanisms, Vol 16, Iss 6 (2023)
مصطلحات موضوعية: ogt, o-glcnac, congenital disorders of glycosylation, intellectual disability, stem cells, self-renewal, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Iben Bache, Astrid Bertsche, Michaela Bonfert, Ingo Borggräfe, Philip J. Broser, Alexandre N. Datta, Trine Bjørg Hammer, Hans Hartmann, Anette Hasse-Wittmer, Marco Henneke, Hermann Kühne, Johannes R. Lemke, Oliver Maier, Eva Matzker, Andreas Merkenschlager, Joachim Opp, Steffi Patzer, Kevin Rostasy, Birgit Stark, Adam Strzelczyk, Celina von Stülpnagel, Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe
المصدر: Biomedicines, Vol 8, Iss 11, p 456 (2020)
مصطلحات موضوعية: PRRT2, BFIS, PKD, PKD/IC, hemiplegic migraine, familial infantile epilepsy, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Claudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, Antonella Riva, Alessandra D'Amico, Sara Cabet, Gaetan Lesca, Leonilda Bilo, Federico Zara, Catrinel Iliescu, Diana Barca, France Fung, Katherine Helbig, Xilma Ortiz-Gonzalez, Helenius J. Schelhaas, Marjolein H. Willemsen, Inge van der Linden, Laura Canafoglia, Carolina Courage, Samuele Gommaraschi, Pedro Gonzalez-Alegre, Tanya Bardakjian, Steffen Syrbe, Elisabeth Schuler, Johannes R. Lemke, Stella Vari, Gitte Roende, Mads Bak, Mahbulul Huq, Zoe Powis, Katrine M. Johannesen, Trine Bjørg Hammer, Rikke S. Møller, Rachel Rabin, John Pappas, Mary L. Zupanc, Neda Zadeh, Julie Cohen, Sakkubai Naidu, Ilona Krey, Russell Saneto, Jenny Thies, Laura Licchetta, Paolo Tinuper, Francesca Bisulli, Raffaella Minardi, Allan Bayat, Nathalie Villeneuve, Florence Molinari, Hormos Salimi Dafsari, Birk Moller, Marie Le Roux, Clara Houdayer, Marilena Vecchi, Isabella Mammi, Elena Fiorini, Jacopo Proietti, Sofia Ferri, Gaetano Cantalupo, Domenica Immacolata Battaglia, Maria Luigia Gambardella, Ilaria Contaldo, Claudia Brogna, Marina Trivisano, Angela De Dominicis, Stefania Maria Bova, Elena Gardella, Pasquale Striano, Antonietta Coppola
المساهمون: Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz-Gonzalez, Xilma, Schelhaas, Helenius J., Willemsen, Marjolein H., van der Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele, Gonzalez-Alegre, Pedro, Bardakjian, Tanya, Syrbe, Steffen, Schuler, Elisabeth, Lemke, Johannes R., Vari, Stella, Roende, Gitte, Bak, Mad, Huq, Mahbulul, Powis, Zoe, Johannesen, Katrine M., Bjørg Hammer, Trine, Møller, Rikke S., Rabin, Rachel, Pappas, John, Zupanc, Mary L., Zadeh, Neda, Cohen, Julie, Naidu, Sakkubai, Krey, Ilona, Saneto, Russell, Thies, Jenny, Licchetta, Laura, Tinuper, Paolo, Bisulli, Francesca, Minardi, Raffaella, Bayat, Allan, Villeneuve, Nathalie, Molinari, Florence, Salimi Dafsari, Hormo, Moller, Birk, Le Roux, Marie, Houdayer, Clara, Vecchi, Marilena, Mammi, Isabella, Fiorini, Elena, Proietti, Jacopo, Ferri, Sofia, Cantalupo, Gaetano, Immacolata Battaglia, Domenica, Luigia Gambardella, Maria, Contaldo, Ilaria, Brogna, Claudia, Trivisano, Marina, De Dominicis, Angela, Maria Bova, Stefania, Gardella, Elena, Striano, Pasquale, Coppola, Antonietta
مصطلحات موضوعية: dynein, infantile epileptic spasms syndrome, lissencephaly/pachygyria, MCDs, DYNC1H1-related epilepsy
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001260785600001; firstpage:2728; lastpage:2750; numberofpages:23; journal:EPILEPSIA; https://hdl.handle.net/11562/1141730
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المؤلفون: Michaela Omelková, Christina Dühring Fenger, Marta Murray, Trine Bjørg Hammer, Veronica M. Pravata, Sergio Galan Bartual, Ignacy Czajewski, Allan Bayat, Andrew T. Ferenbach, Marios P. Stavridis, Daan M. F. van Aalten
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المؤلفون: Janni Majgaard, Jensen, Ulla Schierup, Nielsen, Allan, Bayat, Malene Bøgehus, Rasmussen, Rikke Steensbjerre, Møller, Anne Marie, Bisgaard, Trine Bjørg, Hammer
المصدر: Ugeskrift for laeger. 184(34)
مصطلحات موضوعية: Autism Spectrum Disorder, Humans, Genetic Predisposition to Disease, Genetic Testing, Genomics
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المصدر: Ugeskrift for laeger. 184(26)
مصطلحات موضوعية: Epilepsy, Risk Factors, Seizures, Humans
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المؤلفون: Zaid Afawi, Shekeeb S. Mohammad, Geoffrey Wallace, Ayelet Zerem, Amy L Schneider, Kyra E. Stuurman, Deepak Gill, Alison M. Muir, Russell C. Dale, Gali Heimer, Martino Montomoli, Elena Gardella, Emmanuelle Ranza, Simone Mandelstam, Peter Procopis, Øyvind L. Busk, Christian Korff, Arjan Bouman, Boudewijn Gunning, Connie T.R.M. Stumpel, Yunus Balcik, Christa de Geus, Philipp S. Reif, Yue-Hua Zhang, Sameer M. Zuberi, Volodymyr Kharytonov, Sébastien Küry, Patrick Edery, Sebastien Moutton, Trine Bjørg Hammer, Hannah Stamberger, Joseph D. Symonds, Gaetan Lesca, Samuel F. Berkovic, Massimiliano Rossi, Danique R.M. Vlaskamp, Eric W. Klee, Mark T Mackay, Felix Rosenow, Erica L. Macke, Chirag Patel, Jacob Bie Granild-Jensen, Helenius J. Schelhaas, Danielle M. Andrade, Lynette G. Sadleir, Iris M de Lange, Roseline Caumes, Eva Morava, Frédéric Tran Mau-Them, Anita Cairns, Keren Yosovich, Jing Zhang, Bruria Ben Zeev, Nicolas Chatron, Dorit Lev, Laura Reed, Pauline Monin, Eva H. Brilstra, Birgitte Bertelsen, Georgie Hollingsworth, Nienke E. Verbeek, Heather C Mefford, Rikke S. Møller, Johan R. Helle, Christina Fenger, Meriel McEntagart, Thomas Smol, Mark F. Bennett, Yuri A. Zarate, Renzo Guerrini, Elena Parrini, Candace T. Myers, Judith S. Verhoeven, Bertrand Isidor, Ruth Shalev, David A. Koolen, Ingrid E. Scheffer, Bobby P. C. Koeleman, Lauren Gunderson, Michael S. Hildebrand, Tara Sadoway, Richard J. Leventer, Sanjay M. Sisodiya, Krati Shah, Edith P. Almanza Fuerte
المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Clinical Genetics
المصدر: Genetics in Medicine, 23(2), 363-373. Nature Publishing Group
Genetics in Medicine, 23, 2, pp. 363-373
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in Medicine, 23(2), 363-373. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 363-373مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, INTELLECTUAL DISABILITY, Autism Spectrum Disorder, Encephalopathy, Nerve Tissue Proteins, ILAE COMMISSION, MOSAICISM, Epilepsy/genetics, CLASSIFICATION, Epilepsy, Brain Diseases/genetics, Genes, X-Linked, Seizures, Intellectual disability, Genotype, medicine, Humans, developmental and epileptic encephalopathy, MYOCLONIA, Atonic seizure, Genetics (clinical), Brain Diseases, ddc:618, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], KIAA2022, business.industry, MUTATIONS, medicine.disease, Phenotype, Autism Spectrum Disorder/genetics, Genes, X-Linked/genetics, Autism spectrum disorder, intellectual disability, NEXMIF, Autism, epilepsy, Female, INACTIVATION, Human medicine, Seizures/genetics, business, POSITION PAPER
وصف الملف: application/pdf
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المؤلفون: Tiziana Granata, Elena Freri, Nina Barišić, Paola Costa, Stefania Magri, Paola De Liso, Rami Abou Jamra, Barbara Castellotti, Luciana Musante, Trine Bjørg Hammer, Carla Marini, Gaetan Lesca, Federico Vigevano, Sara Matricardi, Tilman Polster, Cinzia Gellera, Rikke S. Møller, Dana Craiu, Julie Oertel
المصدر: Matricardi, S, De Liso, P, Freri, E, Costa, P, Castellotti, B, Magri, S, Gellera, C, Granata, T, Musante, L, Lesca, G, Oertel, J, Craiu, D, Hammer, T B, Møller, R S, Barisic, N, Abou Jamra, R, Polster, T, Vigevano, F & Marini, C 2020, ' Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene ', Epilepsia, vol. 61, no. 11, pp. 2474-2485 . https://doi.org/10.1111/epi.16699
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Phenytoin, Pediatrics, medicine.medical_specialty, Adolescent, Developmental Disabilities, Genetic counseling, Status epilepticus, neonatal, Young Adult, 03 medical and health sciences, 0302 clinical medicine, tooth hypoplasia, medicine, Humans, Genetic Predisposition to Disease, Child, development, Brain Diseases, Epilepsy, Symporters, business.industry, Genetic Variation, Electroencephalography, autosomal recessive, SLC13A5 gene, Carbamazepine, medicine.disease, Hypodontia, epileptic encephalopathy, 030104 developmental biology, Neurology, Child, Preschool, Developmental Milestone, Female, Phenobarbital, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies, medicine.drug
وصف الملف: application/pdf
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المؤلفون: Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael Levy, Haley McConkey, Mouna Barat-Houari, Kameryn M. Butler, Christine Coubes, Jennifer A. Lee, Gwenael Le Guyader, Raymond J. Louie, Wesley G. Patterson, Matthew L. Tedder, Mads Bak, Trine Bjørg Hammer, William Craigen, Florence Démurger, Christèle Dubourg, Mélanie Fradin, Rachel Franciskovich, Eirik Frengen, Jennifer Friedman, Nathalie Ruiz Palares, Maria Iascone, Doriana Misceo, Pauline Monin, Sylvie Odent, Christophe Philippe, Flavien Rouxel, Veronica Saletti, Petter Strømme, Perla Cassayre Thulin, Bekim Sadikovic, David Genevieve
المساهمون: CHU Clermont-Ferrand, University of Western Ontario (UWO), London Health Sciences Center (LHSC), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), The Greenwood Genetic Center, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Rigshospitalet [Copenhagen], Copenhagen University Hospital, Baylor College of Medicine (BCM), Baylor University, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), 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 ), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Oslo University Hospital [Oslo], University of California [San Diego] (UC San Diego), University of California (UC), Hospital Papa Giovanni XXIII (Hosp P Giovanni XXIII), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Fondazione IRCCS Istituto Neurologico 'Carlo Besta', University of Utah
المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (4), pp.905-914. ⟨10.1016/j.gim.2021.12.003⟩مصطلحات موضوعية: Male, Gabriele-de Vries syndrome, Genome, Phenotype, Neurodevelopmental Disorders, [SDV]Life Sciences [q-bio], Intellectual Disability, Humans, Epigenetics, Syndrome, DNA Methylation, YY1, Genetics (clinical)
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المؤلفون: Jo Sourbron, Katrien Jansen, Davide Mei, Trine Bjørg Hammer, Rikke S. Møller, Nina B. Gold, Lauren O'Grady, Renzo Guerrini, Lieven Lagae
المصدر: Sourbron, J, Jansen, K, Mei, D, Hammer, T B, Møller, R S, Gold, N B, O'Grady, L, Guerrini, R & Lagae, L 2022, ' SLC7A3 : In Silico Prediction of a Potential New Cause of Childhood Epilepsy ', Neuropediatrics, vol. 53, no. 1, pp. 046-051 . https://doi.org/10.1055/s-0041-1739133
مصطلحات موضوعية: Male, Epilepsy, General Medicine, Microarray Analysis, SLC7A3, whole exome sequencing, gene panel, Seizures, case reports, Pediatrics, Perinatology and Child Health, Exome Sequencing, epilepsy, Amino Acid Transport Systems, Basic, Humans, Neurology (clinical), Genetic Testing, Child
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المؤلفون: Brian Nauheimer Andersen, Trine Bjørg Hammer, Niels Ove Illum, Dorte L Lildballe, Naja Becher, Lotte Andreasen, Mikkel Ø Andersen, Pernille Axel Gregersen, Jens Erik K Nielsen, Mette B Thorup, Christina Fagerberg, Emilie Erbs, Anders Bojesen, Charlotte Brasch-Andersen, Monica Zilmer, Soren L Faergeman, Maria Rasmussen
المصدر: Faergeman, S L, Bojesen, A B, Rasmussen, M, Becher, N, Andreasen, L, Andersen, B N, Erbs, E, Lildballe, D L, Nielsen, J E K, Zilmer, M, Hammer, T B, Andersen, M, Brasch-Andersen, C, Fagerberg, C R, Illum, N O, Thorup, M B & Gregersen, P A 2021, ' Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome : Five Danish patients with novel variants in AHDC1 ', European Journal of Medical Genetics, vol. 64, no. 9, 104280 . https://doi.org/10.1016/j.ejmg.2021.104280
مصطلحات موضوعية: Adult, Foot Deformities, Male, AHDC1, Adolescent, Developmental Disabilities, Biology, Frameshift mutation, Craniofacial Abnormalities, Loss of heterozygosity, Young Adult, Neurodevelopmental disorder, Intellectual disability, Genetics, medicine, Humans, Frameshift Mutation, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Whole exome sequencing, Syndrome, General Medicine, medicine.disease, Phenotype, Hypotonia, DNA-Binding Proteins, Dysmorphism, Muscle Hypotonia, Female, medicine.symptom, Xia-gibbs syndrome, Reverse phenotyping
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المؤلفون: Batsal Devkota, José M. Serratosa, Joel N. Hirschhorn, Renzo Guerrini, Patrick May, Johanna A. Jähn, Paul Avillach, Yvonne G. Weber, Sha Tang, Kaja Kristine Selmer, Joseph J. Shen, Annika Rademacher, Joseph Peeden, Ulrich Stephani, Judson Kilbourn, Niklas Schwarz, Deb K. Pal, Lacey Smith, Trine Bjørg Hammer, Carla Marini, Deanne Taylor, Ingo Helbig, Rudi Balling, Arvid Suls, Holger Lerche, Karl Martin Klein, Simone Seiffert, Annapurna Poduri, Bobby P. C. Koeleman, Tania López-Hernández, Deepali N. Shinde, Stéphanie Baulac, Sawona Biswas, Eric LeGuern, Peter D. Galer, Volker Haucke, Katherine L. Helbig, Ian D. Krantz, Aarno Palotie, Sarah Weckhuysen, Nadja Hümpfer, Tiina Talvik, Rikke S. Møller, Roland Krause, Allison Heath, Dorota Hoffman-Zacharska, Nina Barišić, Peter De Jonghe, Hiltrud Muhle, In-Hee Lee, Kenneth D. Mandl, Felix Benninger, Dana Craiu, Florence T. Bourgeois, Colin A Ellis, Sanjay M. Sisodiya, Christel Depienne, Barbara Hallinan, Eric D. Marsh, Susanne Schubert-Bast, Manuela Pendziwiat, Kristen L. Sund, Federico Zara, Tracy A. Glauser, Katalin Štěrbová, Johannes R. Lemke, Oded Shor, Anna-Elina Lehesjoki, Helle Hjalgrim, Anna Bartels, Vladimir Komarek, Peter White, Tarja Linnankivi, Hande Caglayan, Sarah von Spiczak, Shiva Ganesan, Felix Rosenow, Sek Won Kong, Pasquale Striano
المساهمون: EuroEPINOMICS-RES Consortium, GRIN Consortium, Department of Medical and Clinical Genetics, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Institute for Molecular Medicine Finland, HUS Children and Adolescents, Children's Hospital
المصدر: The American journal of human genetics
Helbig, I, Lopez-Hernandez, T, Shor, O, Galer, P, Ganesan, S, Pendziwiat, M, Rademacher, A, Ellis, C A, Hümpfer, N, Schwarz, N, Seiffert, S, Peeden, J, Shen, J, Štěrbová, K, Hammer, T B, Møller, R S, Shinde, D N, Tang, S, Smith, L, Poduri, A, Krause, R, Benninger, F, Helbig, K L, Haucke, V, Weber, Y G, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, K M, Koeleman, B P C, Komarek, V, Leguern, E, Lehesjoki, A E, Lemke, J R, Lerche, H, Linnankivi, T, Marini, C, May, P, Muhle, H, Pal, D K, Palotie, A, Rosenow, F, the EuroEPINOMICS-RES Consortium & the GRIN Consortium 2019, ' A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1060-1072 . https://doi.org/10.1016/j.ajhg.2019.04.001مصطلحات موضوعية: 0301 basic medicine, PROTEIN, ILAE COMMISSION, clathrin-mediated endocytosis, 3124 Neurology and psychiatry, Mice, Epilepsy, 0302 clinical medicine, BINDING, Conditional gene knockout, Missense mutation, Child, Genetics (clinical), Mice, Knockout, Genetics, Brain Diseases, neurodevelopmental disorders, Phenotype, Endocytosis, Adaptor Protein Complex mu Subunits, Child, Preschool, Female, POSITION PAPER, RECRUITMENT, Adolescent, computational phenotypes, developmental and epileptic encephalopathy, Human Phenotype Ontology, synaptic transmission, Adaptor Protein Complex 2, Mutation, Missense, Biology, CLASSIFICATION, Article, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Synaptic vesicle recycling, ADAPTER AP-2, Generalized epilepsy, 3112 Neurosciences, Infant, Receptor-mediated endocytosis, medicine.disease, Clathrin, 030104 developmental biology, DE-NOVO MUTATIONS, 3111 Biomedicine, Human medicine, 030217 neurology & neurosurgery
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المؤلفون: Christina Fenger, Trine Bjørg Hammer, Cathrine E. Gjerulfsen, Allan Bayat, Rikke S. Møller
المصدر: Gjerulfsen, C E, Møller, R S, Fenger, C D, Hammer, T B & Bayat, A 2021, ' Expansion of the CCDC22 associated ritscher-schinzel/3C syndrome and review of the literature : Should the minimal diagnostic criteria be revised? ', European Journal of Medical Genetics, vol. 64, no. 7, 104246 . https://doi.org/10.1016/j.ejmg.2021.104246
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pediatrics, medicine.medical_specialty, RTSCS, Fossa, Adolescent, Mutation, Missense, Disease, 030105 genetics & heredity, Heart Septal Defects, Atrial, Craniofacial Abnormalities, Diagnosis, Differential, 03 medical and health sciences, Epilepsy, CCDC22, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Craniofacial, Genetics (clinical), Genetic testing, medicine.diagnostic_test, biology, business.industry, Epileptic encephalopathy, Ritscher-schinzel syndrome, Proteins, General Medicine, medicine.disease, biology.organism_classification, 030104 developmental biology, Phenotype, 3C syndrome, business, Dandy-Walker Syndrome
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المؤلفون: Nathalie Bednarek, Hannah Stamberger, Anna Basu, Diane Doummar, Walid Fazeli, Sara Zagaglia, Rikke S. Møller, F. Lucy Raymond, S. Krithika, Andrew A Mallick, Tobias Bartolomaeus, Trine Bjørg Hammer, Sarah Weckhuysen, Manju A. Kurian, J. Helen Cross, Bryan Lynch, Alba Sanchis-Juan, Laura Hernandez-Hernandez, Sanjay M. Sisodiya, Helena Martins Custodio, Anirban Majumdar, Cyril Mignot, Dora Steel, Robert Spaull, Mary D. King, Aikaterini Vezyroglou, Kathleen M. Gorman, Boris Keren
المساهمون: Centre de Recherche en Sciences et Technologies de l'Information et de la Communication - EA 3804 (CRESTIC), Université de Reims Champagne-Ardenne (URCA)
المصدر: Neurology
Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, H M, Gorman, K M, Vezyroglou, A, Møller, R S, King, M D, Hammer, T B, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, J H, Mallick, A A, Sanchis-Juan, A, Basu, A, Raymond, F L, Lynch, B J, Majumdar, A, Stamberger, H, Weckhuysen, S, Sisodiya, S M & Kurian, M A 2021, ' RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood ', Neurology, vol. 96, no. 11, pp. e1539-e1550 . https://doi.org/10.1212/WNL.0000000000011543
Zagaglia, S, Steel, D, Krithika, S, Hernandez-Hernandez, L, Custodio, H M, Gorman, K M, Vezyroglou, A, Møller, R S, King Frcpch, M D, Hammer, T B, Spaull, R, Fazeli, W, Bartolomaeus, T, Doummar, D, Keren, B, Mignot, C, Bednarek, N, Cross, J H, Mallick, A A, Sanchis-Juan, A, Basu, A, Raymond, F L, Lynch, B J, Majumdar, A, Stamberger, H, Weckhuysen, S, Sisodiya, S M & Kurian, M A 2021, ' RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood ', Neurology, vol. 96, no. 11, 095539, pp. e1539-e1550 . https://doi.org/10.1212/WNL.0000000000011543
Neurology, American Academy of Neurology, 2021, 96 (11), pp.e1539-e1550. ⟨10.1212/WNL.0000000000011543⟩مصطلحات موضوعية: 0301 basic medicine, Dystonia, Pediatrics, medicine.medical_specialty, Ataxia, business.industry, Alternating hemiplegia of childhood, medicine.disease, Article, 3. Good health, 03 medical and health sciences, Epilepsy, 030104 developmental biology, 0302 clinical medicine, ATP1A3, Intellectual disability, medicine, Missense mutation, Human medicine, Neurology (clinical), Young adult, medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Meena Balasubramanian, Mohnish Suri, Gaetan Lesca, Archana Desurkar, Ann-Charlotte Thuresson, Carina Wallgren-Pettersson, Ashok Raghavan, Rikke S. Møller, T. Michael Yates, Anne Lise Poulat, Trine Bjørg Hammer
المساهمون: Medicum, Department of Medical and Clinical Genetics
المصدر: Yates, T M, Suri, M, Desurkar, A, Lesca, G, Wallgren-Pettersson, C, Hammer, T B, Raghavan, A, Poulat, A-L, Møller, R S, Thuresson, A-C & Balasubramanian, M 2018, ' SLC35A2-related congenital disorder of glycosylation : Defining the phenotype ', European Journal of Paediatric Neurology, vol. 22, no. 6, pp. 1095-1102 . https://doi.org/10.1016/j.ejpn.2018.08.002
مصطلحات موضوعية: Developmental and epileptic encephalopathy, 0301 basic medicine, medicine.medical_specialty, Glycosylation, Neurology, Monosaccharide Transport Proteins, Intellectual disability, Cortical visual impairment, Disease, Bioinformatics, 3124 Neurology and psychiatry, 03 medical and health sciences, medicine, Humans, Abnormalities, Multiple, Congenital disorders of glycosylation, Child, X chromosome, business.industry, 3112 Neurosciences, Infant, General Medicine, medicine.disease, Phenotype, Hypsarrhythmia, 3. Good health, 030104 developmental biology, Pediatrics, Perinatology and Child Health, GENETIC CAUSES, Female, Neurology (clinical), SLC35A2, medicine.symptom, business, Congenital disorder of glycosylation
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المؤلفون: Trine Bjørg Hammer, Birgitte Rode Diness, Gritt Overbeck, Tina Duelund Hjortshøj, Else Sørensen, Susanne Timshel, Marion McAllister
المصدر: Journal of Genetic Counseling. 26:1080-1089
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Psychometrics, Denmark, Genetic counseling, Genetic Counseling, 030105 genetics & heredity, Outcome (game theory), Danish, 03 medical and health sciences, 0302 clinical medicine, Cronbach's alpha, Surveys and Questionnaires, Outcome Assessment, Health Care, Health care, Humans, Medicine, Translations, 030212 general & internal medicine, Genetics (clinical), Descriptive statistics, business.industry, Reproducibility of Results, language.human_language, Family medicine, language, Ceiling effect, Female, Patient-reported outcome, business, Social psychology
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المؤلفون: Jesse M. Hunter, Mary S. Willis, Bryce A. Mendelsohn, Sha Tang, Carlos A. Bacino, Eric Vilain, Hane Lee, Jill A. Rosenfeld, Delphine Héron, Tyler Mark Pierson, Zöe Powis, Shenela Lakhani, Naghmeh Dorrani, Lorenzo D. Botto, Maria J. Guillen Sacoto, Jaclyn Haven, Julie S. Cohen, Trine Bjørg Hammer, Bobby G. Ng, Charles Marques Lourenço, Rita Barone, Jennifer Burton, Ingrid E. Scheffer, Wendy G. Mitchell, Pasquale Striano, Stephanie Grunewald, Stanley F. Nelson, Nicola Longo, Jane Juusola, Fernando Scaglia, Christopher C.Y. Mak, Hudson H. Freeze, Shoji Yano, Leon G. Epstein, Arthur Partikian, Domenico Garozzo, Mohammed Almannai, Joy Lee, Hui Yang, Dianalee McKnight, Abdallah F. Elias, William A. Gahl, Nilika S. Singhal, Christina G.S. Palmer, Devorah Segal, Andrew C. Edmondson, George E. Hoganson, Cyril Mignot, Brian H.Y. Chung, Colleen M. Carlston, Mahim Jain, M. Elizabeth Ross, Paulina Sosicka, David Coman, Sharon F. Suchy, Shane C. Quinonez, Ghayda M. Mirzaa, Katrina M. Dipple, Satish Agadi, Joseph D. Symonds, Lynne A. Wolfe, Marc C. Patterson, Brigid M. Regan, Luisa Sturiale, Mariusz Olczak, Hiltrud Muhle, Katherine Lewis, William B. Dobyns, Matthew R. Herzog
المصدر: Hum Mutat
Human mutation 40 (2019): 908–925. doi:10.1002/humu.23731
info:cnr-pdr/source/autori:Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H./titolo:SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals/doi:10.1002%2Fhumu.23731/rivista:Human mutation/anno:2019/pagina_da:908/pagina_a:925/intervallo_pagine:908–925/volume:40
Human mutation, vol 40, iss 7مصطلحات موضوعية: UDP-galactose, congenital disorders of glycosylation, glycoside, nucleotide sugar transporter, Male, Glycosylation, Monosaccharide Transport Proteins, Cells, Biopsy, Clinical Sciences, CHO Cells, Biology, medicine.disease_cause, Article, Uridine Diphosphate Galactose, 03 medical and health sciences, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Cricetulus, Clinical Research, Genetics, medicine, 2.1 Biological and endogenous factors, Animals, Humans, Aetiology, Allele, Gene, Genetics (clinical), Cells, Cultured, 030304 developmental biology, Pediatric, Genetics & Heredity, 0303 health sciences, Mutation, Cultured, 030305 genetics & heredity, medicine.disease, Phenotype, Biomarker (cell), carbohydrates (lipids), chemistry, Female, Lipid glycosylation, Congenital disorder of glycosylation
وصف الملف: application/pdf
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المؤلفون: Olaf B. Paulson, William F. C. Baaré, Hartwig R. Siebner, Kathrine Skak Madsen, Sara Krøis Holm, Martin D. Vestergaard, Peter Uldall, Alfred Peter Born, Trine Bjørg Hammer
المصدر: Acta Paediatrica. 104:784-791
مصطلحات موضوعية: Male, medicine.medical_specialty, Nephrotic Syndrome, Adolescent, Disease, Speech Disorders, Rheumatic Diseases, Cognitive development, Humans, Medicine, Child, Psychiatry, Glucocorticoids, Retrospective Studies, Wechsler Intelligence Scale for Children, Intelligence Tests, Perinatal Exposure, Intelligence quotient, business.industry, Cumulative dose, Retrospective cohort study, General Medicine, Pediatrics, Perinatology and Child Health, Prednisolone, Female, business, medicine.drug, Clinical psychology
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المؤلفون: B. Glenthøj, Bodil Aggernaes, William F. C. Baaré, Trine Bjørg Hammer, Arnold Skimminge, Bjørn H Ebdrup, Bob Oranje
مصطلحات موضوعية: Adult, Male, Reflex, Startle, Posterior parietal cortex, Grey matter, Brain mapping, Premotor cortex, Young Adult, medicine, Image Processing, Computer-Assisted, Humans, Pharmacology (medical), Biological Psychiatry, Prepulse inhibition, Cerebral Cortex, Brain Mapping, Sensory gating, Brain, Sensory Gating, Startle reaction, Research Papers, Magnetic Resonance Imaging, Psychiatry and Mental health, medicine.anatomical_structure, Superior frontal gyrus, Acoustic Stimulation, Case-Control Studies, Schizophrenia, Psychology, Neuroscience
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المؤلفون: Bob Oranje, Hannah Bro, Birte Glenthøj, Birgitte Fagerlund, Trine Bjørg Hammer
المصدر: The international journal of neuropsychopharmacology. 14(7)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Reflex, Startle, Time Factors, Audiology, Mental Processes, Moro reflex, medicine, Humans, Pharmacology (medical), Habituation, Habituation, Psychophysiologic, Prepulse inhibition, Pharmacology, Antipsychotic naive, Follow up studies, Stimulus onset asynchrony, Neural Inhibition, medicine.disease, Psychiatry and Mental health, Schizophrenia, Endophenotype, Case-Control Studies, Psychology, Clinical psychology, Antipsychotic Agents, Follow-Up Studies
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