المؤلفون: Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi, Marco Fichera

المصدر: Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Phelan-McDermid syndrome, SHANK3, RYR2, Reciprocal translocation, Balanced rearrangements, Next-generation sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13039-020-00490-6Test; https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/35fd16790adc46e8a865fc9511e50a52Test

المؤلفون: Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/663adb56ce6f405da787645af9303af8Test

المؤلفون: Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope, Penny Snell, Paul J. Lockhart, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Giuseppa Maria Luana Mandara, Maria Grazia Bruccheri, Olivier Pichon, Cedric Le Caignec, Radka Stoeva, Silvestre Cuinat, Sandra Mercier, Claire Beneteau, Sophie Blesson, Ashley Nordsletten, Dominique Martin-Coignard, Erik Sistermans, R. Frank Kooy, David J. Amor, Corrado Romano, Bertrand Isidor, Jane Juusola, Santhosh Girirajan

المصدر: medRxiv

مصطلحات موضوعية: Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16abc621e8896a2a8b4693832e9d8dc5Test
https://europepmc.org/articles/PMC10246151Test/

المؤلفون: Paulien A Terhal, Rosa Pettinato, Jessica Jackson, Maria J. Guillen Sacoto, R. Frank Kooy, Rolph Pfundt, Grace E. VanNoy, Asbjørg Stray-Pedersen, Elizabeth Judd, Tuula Rinne, Rhonda E. Schnur, Marie José H. Van Den Boogaard, Jolien S. Klein Wassink-Ruiter, Paldeep S. Atwal, David A. Sweetser, Ilse J. Anderson, Jessica L. Waxler, Ilse M. van der Werf, Kristian Tveten, Alexander P.A. Stegmann, Petra de Vries, Alexandra Afenjar, Lisenka E.L.M. Vissers, Anke Van Dijck, Sonja A. de Munnik, Anthonie J. van Essen, Ivan Iossifov, Marcia C. Willing, Charu Kaiwar, Charlotte W. Ockeloen, Joris A. Veltman, Mieke M. van Haelst, Diane Doummar, Sandra Jansen, Marije Meuwissen, Eric W. Klee, Pankaj B. Agrawal, Ellen van Binsbergen, Bert B.A. de Vries, Victoria R. Sanders, A. Micheil Innes, Kristin G. Monaghan, Hilary Racher, Corrado Romano, Zeynep Coban-Akdemir, Albertien M. van Eerde, Eric J. Smeets, Caroline Nava, Lucia Castiglia, Boris Keren, Koen L.I. van Gassen

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output

المصدر: European Journal of Human Genetics, 27(5), 738. Nature Publishing Group
European Journal of Human Genetics, 27(5), 738-746. Nature Publishing Group
European journal of human genetics
Jansen, S, van der Werf, I M, Innes, A M, Afenjar, A, Agrawal, P B, Anderson, I J, Atwal, P S, van Binsbergen, E, van den Boogaard, M J, Castiglia, L, Coban-Akdemir, Z H, van Dijck, A, Doummar, D, van Eerde, A M, van Essen, A J, van Gassen, K L, Guillen Sacoto, M J, van Haelst, M M, Iossifov, I, Jackson, J L, Judd, E, Kaiwar, C, Keren, B, Klee, E W, Klein Wassink-Ruiter, J S, Meuwissen, M E, Monaghan, K G, de Munnik, S A, Nava, C, Ockeloen, C W, Pettinato, R, Racher, H, Rinne, T, Romano, C, Sanders, V R, Schnur, R E, Smeets, E J, Stegmann, A P A, Stray-Pedersen, A, Sweetser, D A, Terhal, P A, Tveten, K, VanNoy, G E, de Vries, P F, Waxler, J L, Willing, M, Pfundt, R, Veltman, J A, Kooy, R F, Vissers, L E L M & de Vries, B B A 2019, ' De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms ', European Journal of Human Genetics, vol. 27, no. 5, pp. 738-746 . https://doi.org/10.1038/s41431-018-0292-2Test
Eur J Hum Genet
European Journal of Human Genetics, 27, 5, pp. 738-746
European Journal of Human Genetics, 27, 738-746

مصطلحات موضوعية: Protein-Arginine N-Methyltransferases, media_common.quotation_subject, Nonsense, Biology, PHENOTYPE, Article, DNA sequencing, Frameshift mutation, GENEMATCHER, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, E3, Intellectual Disability, Intellectual disability, Genetics, medicine, Journal Article, UBIQUITIN LIGASES, Missense mutation, Humans, Abnormalities, Multiple, Gene, Genetics (clinical), media_common, 0303 health sciences, Behavior, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, MUTATIONS, F-Box Proteins, 030305 genetics & heredity, Genetic Variation, Syndrome, medicine.disease, GENE, CANCER, Hypotonia, FAMILY, Chemistry, Autism spectrum disorder, Human medicine, medicine.symptom, Abnormalities, Multiple, Gene Deletion, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: text/plain; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d0896a48e7dddd27391d52908cefacTest
https://cris.maastrichtuniversity.nl/en/publications/6e65d3eb-7b7a-4647-b5bd-029f1752f5d4Test

المؤلفون: Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon

المساهمون: Pennsylvania State University (Penn State), Penn State System, Baylor College of Medicine (BCM), Baylor University, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Michigan State University [East Lansing], Michigan State University System, McMaster University [Hamilton, Ontario], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Antwerp University Hospital [Edegem] (UZA), Murdoch Children's Research Institute (MCRI), Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Perelman School of Medicine, University of Pennsylvania [Philadelphia], Medical Genetics, Service de Génétique Médicale, Hôpital Bretonneau, Tours, Laboratoire de génétique médicale et cytogénétique [Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Liège (CHU-Liège), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Greenwood Genetic Center, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Greenwood Genetic Center [Greenwood, South Carolina, USA], Institut de Génétique Médicale [CHRU Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3Test
Genetics in medicine

مصطلحات موضوعية: Male, Parents, 0301 basic medicine, Proband, Neuronal, Genetic Carrier Screening, 16p11.2 deletion, 030105 genetics & heredity, Cognition, Family history, Neural Cell Adhesion Molecules, Genetics (clinical), Exome sequencing, Sequence Deletion, Genetics, Phenotype, Penetrance, Pedigree, Autistic Disorder/genetics, Autistic Disorder/physiopathology, Cell Adhesion Molecules, Neuronal/genetics, Chromosomes, Human, Pair 16/genetics, Cognition/physiology, DNA Copy Number Variations/genetics, Female, Gene Expression Regulation/genetics, Genetic Background, Humans, Methyltransferases/genetics, Nerve Tissue Proteins/genetics, Proteins/genetics, Sequence Deletion/genetics, Siblings, CNV, autism, modifier, phenotypic variability, Human, DNA Copy Number Variations, Cell Adhesion Molecules, Neuronal, Nerve Tissue Proteins, Biology, Chromosomes, Article, 03 medical and health sciences, mental disorders, medicine, Autistic Disorder, Gene, Pair 16, Calcium-Binding Proteins, Proteins, Methyltransferases, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, Human medicine, Chromosomes, Human, Pair 16, Cell Adhesion Molecules, Transcription Factors

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbf6c41b5e591ac3592571ea1af83d4bTest
http://www.scopus.com/inward/record.url?scp=85053071043&partnerID=8YFLogxKTest

المؤلفون: Elisa Tassano, Monica Fumagalli, V.G.C. Fergnani, Luigina Spaccini, Lorenzo Colombo, Donatella Greco, Silvana Guerneri, Giorgio Conte, Elisa Scola, Odoardo Picciolini, A. Righini, Cesare Danesino, Andrea Accogli, Paola Francesca Ajmone, Claudia Cinnante, Rosamaria Silipigni, Maria Francesca Bedeschi, Corrado Romano, Valeria Capra, Myriam Srour, Francesca Madia, Lucia Castiglia, A. Guala, Marcello Scala, R. Villa, Silvana Gangi

مصطلحات موضوعية: Adult, Male, Microcephaly, Pathology, medicine.medical_specialty, Neuroradiological phenotype, Adolescent, Pontine hypoplasia, Cri du Chat Syndrome, Cri-du-chat syndrome, Biology, Corpus callosum, White matter, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Neuroimaging, 030225 pediatrics, medicine, Humans, Child, Preschool, Genetic Association Studies, Genetic testing, 5p deletions, medicine.diagnostic_test, Infant, Newborn, Brain, Infant, Brain MRI, General Medicine, medicine.disease, Newborn, Magnetic Resonance Imaging, Hypotonia, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f64ce31d378309e3762a6a43d324d28Test
https://hdl.handle.net/11567/1119290Test

المؤلفون: Charles E. Schwartz, Marjolein H. Willemsen, Saadet Mercimek-Andrews, Amy B. Wilfert, Hugo J. Bellen, Alexander P.A. Stegmann, Tjitske Kleefstra, Pawel Stankiewicz, Benjamin Büttner, Hailun Ni, Rongjuan Zhao, Rami Abou Jamra, Mariëtte J.V. Hoffer, Kristin Herman, Marjan M. Weiss, Heather C Mefford, Huidan Wu, Deanna J. Erwin, Zhengmao Hu, Claudia A. L. Ruivenkamp, Helger G. Yntema, Cindy Colson, Alessandra Murgia, Maria Bottitta, Jane Juusola, Tianyun Wang, Stephen M. Malone, Kun Xia, Baosheng Zhu, Nicolas Richard, Jozef Gecz, Elisa Bettella, Tuula Rinne, Raphael Bernier, Emilia K. Bijlsma, Michael F. Wangler, Shinya Yamamoto, Brigid M. Regan, Sharayu Jangam, Bregje W.M. van Bon, Jill A. Rosenfeld, Kendra Hoekzema, Cenying Liu, Shweta U. Dhar, Stefano Sartori, Boris Keren, Hui Guo, Lucia Castiglia, Servi J. C. Stevens, Corrado Romano, Min Long, Tomasz J. Nowakowski, Evan E. Eichler, Jan Maarten Cobben, Alison M. Muir, Lisa Emrick, Quinten Waisfisz, Wenjing Zhao, Jonathan C. Andrews, Ingrid E. Scheffer, Bing Bai, Madelyn A. Gillentine, Paul C. Marcogliese, Fan Xia, Han G. Brunner, Alexandra Afenjar

المساهمون: Academic Medical Center, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Klinische Genetica, Chinese Academy of Forestry, University Hospital of Padua, Baylor College of Medicine (BCM), Baylor University, Texas Children's Hospital [Houston, USA], Central South University [Changsha], University of California, Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Department of Genome Sciences [Seattle] (GS), University of Washington [Seattle], Radboud University Medical Center [Nijmegen], Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Ecosystèmes méditerranéens et risques (UR EMAX), Centre national du machinisme agricole, du génie rural, des eaux et forêts (CEMAGREF), Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), The Greenwood Genetic Center, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Kunming University of Science and Technology (KMUST), The Hospital for sick children [Toronto] (SickKids), University of Toronto, GeneDx [Gaithersburg, MD, USA], Universität Leipzig [Leipzig], University of Melbourne, Queensland Institute of Medical Research, University of Adelaide, Emma Children’s Hospital, Vrije Universiteit Amsterdam [Amsterdam] (VU), Leiden University Medical Center (LUMC), The Chinese University of Hong Kong [Hong Kong], Human genetics

المصدر: Guo, H, Bettella, E, Marcogliese, P C, Zhao, R, Andrews, J C, Nowakowski, T J, Gillentine, M A, Hoekzema, K, Wang, T, Wu, H, Jangam, S, Liu, C, Ni, H, Willemsen, M H, van Bon, B W, Rinne, T, Stevens, S J C, Kleefstra, T, Brunner, H G, Yntema, H G, Long, M, Zhao, W, Hu, Z, Colson, C, Richard, N, Schwartz, C E, Romano, C, Castiglia, L, Bottitta, M, Dhar, S U, Erwin, D J, Emrick, L, Keren, B, Afenjar, A, Zhu, B, Bai, B, Stankiewicz, P, Herman, K, Nickerson, D A, Bamshad, M J, Mercimek-Andrews, S, Juusola, J, Wilfert, A B, Abou Jamra, R, Büttner, B, Mefford, H C, Muir, A M, Scheffer, I E, Regan, B M, Malone, S, Gecz, J, Cobben, J, Weiss, M M, Waisfisz, Q, Bijlsma, E K, Hoffer, M J V, Ruivenkamp, C A L, Sartori, S, Xia, F, Rosenfeld, J A, Bernier, R A, Wangler, M F, Yamamoto, S, Xia, K, Stegmann, A P A, Bellen, H J, Murgia, A, Eichler, E E & University of Washington Center for Mendelian Genomics 2019, ' Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders ', Nature Communications, vol. 10, no. 1, 4679 . https://doi.org/10.1038/s41467-019-12435-8Test
Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
Nature Communications, 10
Nature Communications, 10. NATURE PUBLISHING GROUP
Nature communications, 10(1):4679. Nature Publishing Group
Nature Communications, 10:4679. Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4679. ⟨10.1038/s41467-019-12435-8⟩
Nature Communications, 10(1):4679. Nature Publishing Group UK

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Genetics of the nervous system, Developmental Disabilities, General Physics and Astronomy, Muscle Proteins, medicine.disease_cause, ANNOTATION, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Whole Exome Sequencing, Craniofacial Abnormalities, Epilepsy, 0302 clinical medicine, Postsynaptic potential, Intellectual disability, Drosophila Proteins, lcsh:Science, Child, SYNAPTIC DEVELOPMENT, Neurons, Mutation, Multidisciplinary, Behavior, Animal, Mental Disorders, Brain, Drosophila melanogaster, Child, Preschool, Behavioural genetics, Excitatory postsynaptic potential, Female, Neuroglia, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, GENES, Adolescent, Science, Nerve Tissue Proteins, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, RESOURCE, Intellectual Disability, Exome Sequencing, medicine, Animals, Humans, Language Development Disorders, Autistic Disorder, Psychiatry, Preschool, [SDV.GEN]Life Sciences [q-bio]/Genetics, Behavior, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Animal, MEMORY, Membrane Proteins, Proteins, General Chemistry, medicine.disease, FRAMEWORK, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DE-NOVO MUTATIONS, Neurodevelopmental Disorders, Neuronal development, Autism, lcsh:Q, business, Postsynaptic density, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef65fc059436750efb3c5a1fb922c24Test
https://research.vumc.nl/en/publications/42063201-c6d1-4097-87df-553d6c02bdaeTest

المؤلفون: Emanuele G. Coci, Lucia Castiglia, Domenico Serino, I. Marquardt, Maurizio Elia, R. A. Husain, Christian Fink, Thomas Liehr

المصدر: Journal of Intellectual Disability Research. 62:359-370

مصطلحات موضوعية: 0301 basic medicine, Cerebellum, Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Rehabilitation, Magnetic resonance imaging, Electroencephalography, Corpus callosum, medicine.disease, 03 medical and health sciences, Psychiatry and Mental health, Epilepsy, 030104 developmental biology, medicine.anatomical_structure, Neurology, Arts and Humanities (miscellaneous), Autism spectrum disorder, Gene duplication, medicine, Neurology (clinical), business, Ventriculomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef6cf5bdb853b1a76b9b2960b5c31b76Test
https://doi.org/10.1111/jir.12457Test

المؤلفون: Michele Falco, Angelo Gloria, S. Amata, Lucia Grillo, Maria Piccione, Angela Spalletta, Maurizio Sturnio, Marco Fichera, Vincenzo Antona, Ornella Galesi, Lucia Castiglia, Girolamo Aurelio Vitello, Michele Salemi, Mirella Vinci

المساهمون: Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G., Fichera, M.

المصدر: Genes & Genomics. 38:1159-1164

مصطلحات موضوعية: 0301 basic medicine, Genetics, CRASH syndrome, Hydrocephalu, Sequence analysis, Spastic paraplegia, MASA syndrome, L1-disease, Biology, Corpus callosum, medicine.disease, Biochemistry, Human genetics, Hydrocephalus, 03 medical and health sciences, 030104 developmental biology, Intellectual disability, medicine, Adducted thumb, Differential diagnosis, L1 syndrome, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f28490319301bc315aa88659e7e9ac14Test
https://doi.org/10.1007/s13258-016-0460-0Test

المؤلفون: Teresa Mattina, Lucia Saccuzzo, Santina Città, Lucia Castiglia, Marco Fichera, Michele Salemi, Corrado Romano, Mirella Vinci, Carmela Scuderi, Eugenia Borgione, Ornella Galesi

مصطلحات موضوعية: Adult, Male, Ataxia, Cerebellar Ataxia, DNA Copy Number Variations, Single-nucleotide polymorphism, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Consanguinity, Intellectual Disability, Intellectual disability, Gene duplication, Genetics, medicine, SNP, Humans, Genetic Predisposition to Disease, Copy-number variation, Genetics (clinical), Genetic Association Studies, Aged, 0303 health sciences, Microarray analysis techniques, Siblings, 030305 genetics & heredity, Middle Aged, medicine.disease, Cerebellar atrophy, Female, medicine.symptom, Atrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc0e8301b0ee7d9a41a71ef0294f88b4Test
http://hdl.handle.net/20.500.11769/359702Test