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1دورية أكاديمية
المؤلفون: Kinga K. Tomczak, Jennifer Worhach, Michael Rich, Olivia Swearingen Ludolph, Susan Eppling, Georgios Sideridis, Tamar C. Katz
المصدر: Brain and Behavior, Vol 14, Iss 3, Pp n/a-n/a (2024)
مصطلحات موضوعية: functional tic‐like behaviors, functional tics, tic disorders, Tourette syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2162-3279
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2دورية أكاديمية
المصدر: Frontiers in Psychiatry, Vol 13 (2022)
مصطلحات موضوعية: Tourette syndrome, obsessive-compulsive disorder, OCD, TOCD, Tourettic OCD, Psychiatry, RC435-571
وصف الملف: electronic resource
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المؤلفون: Kinga K. Tomczak, Jennifer Worhach, Stephanie Thuy Trang Nguyen, Shanshan Liu, Susanne Hoeppner, Bo Zhang, Erica Greenberg
المصدر: Personalized Medicine in Psychiatry. :100103
مصطلحات موضوعية: Psychiatry and Mental health, Clinical Psychology, Neurology (clinical)
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المؤلفون: Nghi Dang, Jonas Denecke, Jaclyn B. Murry, Laurence A. Bindoff, Tatjana Bierhals, Caroline Nava, Jordan H. Whitlock, Anne Slavotinek, Julian A. Martinez-Agosto, Frédéric Bilan, Ana Beleza-Meireles, Caroline Estes, Janneke H M Schuurs-Hoeijmakers, Adam Jackson, Christiane Zweier, David T. Miller, Kirsty McWalter, Gunnar Houge, Boris Keren, Jun Wang, Kinga K. Tomczak, Hans-Jürgen Kreienkamp, Siren Berland, Fabiola Quintero-Rivera, Charlotte A. Haaxma, Gwenaël Le Guyader, Laura Kellogg, Siddharth Banka, John M. Parant, Nan Cher Yeo, Jirat Chenbhanich, Davor Lessel, Cornelia Kraus, Yolanda Holler-Managan, Kelly Q. Minks, Julie Fleischer, Sarah F. Smithson, Geir J. Braathen, Ilaria Mannucci, Stanley F. Nelson, Trine Prescott, Luis F. Escobar, Simone F. Reiter, Kristian Tveten, David Bearden, Utz Fischer, Christian Kubisch, Perry B. Shieh, Jeff Abramson, Jane Juusola, Maja Hempel, Ulf W. Ljungblad, Daniel Groepper, Hannes Huber, Billur Moghaddam, Leslie Manace Brenman, Thorsten Althoff, Matthew Might, Alexander P.A. Stegmann, Cathy Kiraly-Borri, Øyvind L. Busk, Gareth Baynam, Hanitra Randrianaivo, Paul J. Benke, Farrah Rajabi
المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: Genome Medicine, 13, 1
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3 <http://dx.doi.org/10.1186/s13073-021-00900-3>مصطلحات موضوعية: 0301 basic medicine, INTELLECTUAL DISABILITY, Gene Expression, MEDICAL GENETICS, QH426-470, GUIDELINES, 0302 clinical medicine, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, 610 Medicine & health, Zebrafish, Genetics (clinical), Pediatric, Genetics, screening and diagnosis, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Immunohistochemistry, Phenotype, RNA Helicase A, Detection, Mental Health, Gene Knockdown Techniques, Medicine, Molecular Medicine, Medical genetics, Haploinsufficiency, RNA Helicases, STANDARDS, medicine.medical_specialty, Clinical Sciences, AMERICAN-COLLEGE, Biology, 03 medical and health sciences, Clinical Research, Molecular genetics, REVEALS, medicine, Animals, Humans, Genetic Predisposition to Disease, ddc:610, AUTISM, Molecular Biology, Germ-Line Mutation, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, MUTATIONS, Research, Prevention, biology.organism_classification, Human genetics, 4.1 Discovery and preclinical testing of markers and technologies, HEK293 Cells, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, RNA HELICASE, Biomarkers, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Alexander P.A. Stegmann, Jun Wang, Anne Slavotinek, Cornelia Kraus, Paul J. Benke, Christiane Zweier, Fabiola Quintero-Rivera, Øyvind L. Busk, Kirsty McWalter, Hans-Jürgen Kreienkamp, Luis F. Escobar, Geir J. Braathen, Kristian Tveten, Farrah Rajabi, Charlotte A. Haaxma, David Bearden, John M. Parant, Yolanda Holler-Managan, Nghi Dang, Leslie Manace Brenman, Ana Beleza, Thorsten Althoff, Cathy Kiraly-Borri, Maja Hempel, Christian Kubisch, Kelly Q. Minks, Laura Kellogg, Hannes Huber, Ulf W. Ljungblad, Hanitra Randrianaivo, Perry B. Shieh, Jeff Abramson, Jirat Chenbhanich, Jonas Denecke, Billur Moghaddam, Gareth Baynam, Kinga K. Tomczak, Matthew Might, Jane Juusola, Jordan H. Whitlock, Gunnar Houge, Julie Fleischer, Laurence A. Bindoff, Siren Berland, Tatjana Bierhals, Adam Jackson, Gwenaël Le Guyader, Stanley F. Nelson, Caroline Estes, Nan Cher Yeo, Simone F. Reiter, Utz Fischer, Sarah F. Smithson, Daniel Groepper, Siddharth Banka, Davor Lessel, Frédéric Bilan, Ilaria Mannucci, Trine Prescott, David T. Miller, Janneke H M Schuurs-Hoeijmakers, Boris Keren, Jaclyn B. Murry, Caroline Nava, Julian A. Martinez-Agosto
مصطلحات موضوعية: Genetics, medicine.medical_specialty, biology, medicine.disease, biology.organism_classification, RNA Helicase A, Phenotype, Neurodevelopmental disorder, Molecular genetics, medicine, Missense mutation, Global developmental delay, Haploinsufficiency, Zebrafish
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f76f0fda77edaab5af461715f228d85b
https://doi.org/10.1101/2020.09.24.20196097 -
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المؤلفون: Leonela Amoasii, Karim Hnia, Kinga K. Tomczak, Jocelyn Laporte, Alan H. Beggs, Hélène Tronchère, Patrick Schultz, Jean-Louis Mandel, Bernard Payrastre
المصدر: Journal of Clinical Investigation. 121:70-85
مصطلحات موضوعية: Models, Molecular, Myotubularin, Recombinant Fusion Proteins, Intermediate Filaments, macromolecular substances, In Vitro Techniques, Biology, Cell Line, Desmin, Mice, Microscopy, Electron, Transmission, medicine, Animals, Humans, Myocyte, Protein Interaction Domains and Motifs, Centronuclear myopathy, Muscle, Skeletal, Myopathy, Intermediate filament, Mice, Knockout, Skeletal muscle, General Medicine, Protein Tyrosine Phosphatases, Non-Receptor, medicine.disease, Molecular biology, X-linked myotubular myopathy, Mitochondria, Muscle, medicine.anatomical_structure, Mutation, medicine.symptom, Research Article, Myopathies, Structural, Congenital
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المؤلفون: C G Murphy, M W Shannon, Y Y Wang, Jonathan N. Glickman, Kinga K. Tomczak, Bruce H. Horwitz, Alan H. Beggs
المصدر: Mucosal Immunology. 1:297-308
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Neutrophils, Immunology, Peripheral blood mononuclear cell, Article, Crohn Disease, Gene expression, medicine, Humans, Immunology and Allergy, Interleukin 8, Child, Gene, business.industry, Gene Expression Profiling, Interleukin-8, Interleukin, Appendicitis, medicine.disease, Gene expression profiling, Child, Preschool, Acute Disease, Leukocytes, Mononuclear, Immunohistochemistry, Female, business
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المؤلفون: Charles Midgett, Kinga K. Tomczak, Ana Morales, Susan T. Iannaccone, Melisa A. Poulos, Pankaj B. Agrawal, Alan H. Beggs, Monique M. Ryan, Thomas O. Crawford, Nigel G. Laing, Daniel E. Newburger, Corinne D. Strickland
المصدر: Annals of Neurology. 56:86-96
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Biopsy, DNA Mutational Analysis, Gene mutation, Biology, Myopathies, Nemaline, medicine.disease_cause, Compound heterozygosity, Nemaline myopathy, medicine, Animals, Humans, Protein Isoforms, Actinin, Child, Muscle, Skeletal, Nemaline bodies, Aged, Aged, 80 and over, Mutation, Infant, Skeletal muscle, Middle Aged, medicine.disease, Penetrance, Actins, Hypotonia, medicine.anatomical_structure, Neurology, Child, Preschool, Female, Neurology (clinical), medicine.symptom
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المؤلفون: Kinga K. Tomczak, N. Paul Rosman
المصدر: Journal of child neurology. 28(3)
مصطلحات موضوعية: Neck Muscles, Pediatrics, Perinatology and Child Health, Humans, Neurology (clinical), Neck, Torticollis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4de853039907dd435c5fe052f82e2a6
https://pubmed.ncbi.nlm.nih.gov/23271760 -
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المؤلفون: Marco Ramoni, Michael J. Molloy, Alan H. Beggs, Emanuela Gussoni, Soonsang Yoon, Kinga K. Tomczak, Massimiliano Cerletti, Alvin T. Kho
مصطلحات موضوعية: Adult, Gestational Age, CD146 Antigen, Biology, MyoD, Cell Fractionation, Article, Cell Fusion, Myoblasts, Myoblast fusion, Fetus, Pregnancy, medicine, Myocyte, Animals, Humans, Muscle, Skeletal, Cells, Cultured, Oligonucleotide Array Sequence Analysis, Cell fusion, Myogenesis, Gene Expression Profiling, Skeletal muscle, Endothelial Cells, Cell Biology, musculoskeletal system, Molecular biology, medicine.anatomical_structure, CD146, Female, RNA Interference, C2C12, Biomarkers
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2305bed7a74d8914306eb20e07b36eb
https://europepmc.org/articles/PMC1578761/
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