المؤلفون: Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte

المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-3 (2018)

مصطلحات موضوعية: DNM2, MTM1, Congenital myopathy, Centronuclear myopathy, Hypotonia, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s40478-018-0593-2Test; https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/4fb80b1c3c264e16863f8ee3b4ad28e5Test

المؤلفون: Eeva Sliz, Mari Taipale, Maiju Welling, Sini Skarp, Viivi Alaraudanjoki, Jaakko Ignatius, Lloyd Ruddock, Ritva Nissi, Minna Männikkö

المصدر: PLoS ONE, Vol 12, Iss 4, p e0175474 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5391938?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/c2c6ece9808e41c2995a6ad6ed96157eTest

المؤلفون: Jaakko Ignatius

المصدر: Finnish Yearbook of Population Research, Vol 32 (1995)

مصطلحات موضوعية: Social Sciences, Demography. Population. Vital events, HB848-3697

وصف الملف: electronic resource

العلاقة: https://journal.fi/fypr/article/view/44881Test; https://doaj.org/toc/1796-6183Test; https://doaj.org/toc/1796-6191Test

الوصول الحر: https://doaj.org/article/f51e27f82feb48d29547fdd60e1a51dfTest

المؤلفون: Jaakko Ignatius, Jouko Jarvenpaa, Jaana Nevalainen, Eeva-Riitta Savolainen, Markku Ryynanen

المصدر: European Journal of Obstetrics & Gynecology and Reproductive Biology. 230:32-35

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Placenta Diseases, Intrauterine growth restriction, 030204 cardiovascular system & hematology, Thrombophilia, 03 medical and health sciences, 0302 clinical medicine, Pre-Eclampsia, Pregnancy, Prevalence, medicine, Humans, Risk factor, Paternal Inheritance, Abruptio Placentae, Methylenetetrahydrofolate Reductase (NADPH2), Activated Protein C Resistance, Maternal thrombophilia, Fetus, Fetal Growth Retardation, 030219 obstetrics & reproductive medicine, Placental abruption, business.industry, Obstetrics, Pregnancy Complications, Hematologic, Pregnancy Outcome, Factor V, Obstetrics and Gynecology, Stillbirth, medicine.disease, ta3123, Fetal Diseases, Reproductive Medicine, Case-Control Studies, Mutation, embryonic structures, Female, Prothrombin, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6881ff9b8e5c08044ba6823ffc4ffaa9Test
https://doi.org/10.1016/j.ejogrb.2018.09.016Test

المؤلفون: Nabil Sabri Enattah, Professor Leena Peltonen-palotie, Docent Irma Järvelä, Professor Jaakko Ignatius, Docent Tarja Ruuska, Docent Maija Wessman

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/enattah/molecula.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.375.5434Test; http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/enattah/molecula.pdfTest

الإتاحة: http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/enattah/molecula.pdfTest

المؤلفون: Marja Hietala, Laura Määttänen, Maria Arvio, Jaakko Ignatius

المصدر: American journal of medical genetics. Part A. 176(8)

مصطلحات موضوعية: 0301 basic medicine, Hypertrichosis, medicine.medical_specialty, Micrognathism, 030105 genetics & heredity, 03 medical and health sciences, Loss of Function Mutation, Intellectual Disability, Intellectual disability, otorhinolaryngologic diseases, Genetics, medicine, Humans, Abnormalities, Multiple, Coffin–Siris syndrome, Genetics (clinical), hirsutism, Aged, business.industry, ta3142, Aplasia, medicine.disease, Dermatology, Hypoplasia, DNA-Binding Proteins, medicine.anatomical_structure, Scalp, Face, Nail (anatomy), Female, business, Hand Deformities, Congenital, Neck, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab1b7f725c47ce7141f8759015e6ddeTest
https://pubmed.ncbi.nlm.nih.gov/30055038Test

المؤلفون: Outi Mäkitie, Sanna Toiviainen-Salo, Mariam Anees, Mehran Kausar, Riikka E. Mäkitie, Jaakko Ignatius

المساهمون: University of Helsinki, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, HUS Children and Adolescents, University Management, Lastentautien yksikkö, Children's Hospital

المصدر: European Journal of Medical Genetics.

مصطلحات موضوعية: Male, Double-layer patella, 0301 basic medicine, Pathology, PROMOTER, TNF, SUSCEPTIBILITY, 030105 genetics & heredity, Compound heterozygosity, Missense mutation, Genetics (clinical), Valgus deformity, biology, Achondrogenesis, 1184 Genetics, developmental biology, physiology, ASSOCIATION, General Medicine, 3. Good health, Sulfate Transporters, Child, Preschool, Chondrodysplasia, Female, medicine.symptom, Adult, EXPRESSION, Heterozygote, medicine.medical_specialty, GENE POLYMORPHISM, Genotype, rMED, Mutation, Missense, Dwarfism, Genes, Recessive, SLC26A2, Osteochondrodysplasias, TUBERCULOSIS, Achondroplasia, Multiple epiphyseal dysplasia, 03 medical and health sciences, MODIFIER GENES, Genetics, medicine, Humans, CYSTIC-FIBROSIS, business.industry, ta1184, Robin sequence, NECROSIS-FACTOR-ALPHA, medicine.disease, 030104 developmental biology, biology.protein, Diastrophic dysplasia, 3111 Biomedicine, Gene polymorphism, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1de9201cd0c8b917ea3bce5227e72851Test
https://doi.org/10.1016/j.ejmg.2018.11.007Test

المؤلفون: Taehwan Shin, Connor J. Kenny, Grazia M.S. Mancini, Carsten G. Bönnemann, R. Sean Hill, Christopher A. Walsh, Eva Andermann, Martina Wilke, Anna-Kaisa Anttonen, Ryan N. Doan, Ritva Paetau, Kiho Im, Anna-Elina Lehesjoki, Marie Claire Y. de Wit, Ahram Jang, László Sztriha, Rebeca Borges-Monroy, A. James Barkovich, Oili Salonen, Dina Amrom, Maria K. Lehtinen, Annapurna Poduri, Livija Medne, Jaakko Ignatius, Jennifer N. Partlow, Jonathan L. Hecht, Allen Y. Chen, Richard S. Smith, Vijay S. Ganesh

المساهمون: Clinical Genetics, Neurology, Anna-Elina Lehesjoki / Principal Investigator, Department of Medical and Clinical Genetics, Neuroscience Center, Medicum, Research Programme for Molecular Neurology, Research Programs Unit, University of Helsinki, Clinicum, Department of Diagnostics and Therapeutics, HUS Medical Imaging Center, Children's Hospital, Lastenneurologian yksikkö

المصدر: Neuron, 99(5), 905-+. Cell Press
Neuron, vol 99, iss 5

مصطلحات موضوعية: Male, 0301 basic medicine, PERISYLVIAN POLYMICROGYRIA, Neurodegenerative, Ion Channels, Sodium Channels, 3124 Neurology and psychiatry, SCN3A, Cell Movement, Cortex (anatomy), NAV1.3 Voltage-Gated Sodium Channel, Polymicrogyria, 2.1 Biological and endogenous factors, Psychology, SCN1A, Aetiology, Child, NEURONS, EPILEPSY, Pediatric, Cerebral Cortex, Cultured, General Neuroscience, Outer Radial Glia, Cortical Development, Middle Aged, Na(V)1.3, Pedigree, Na(V)1.1, medicine.anatomical_structure, Neurological, Female, Cognitive Sciences, ALPHA-SUBUNIT, RADIAL GLIA, Adult, EXPRESSION, REVERSE NA+/CA2+ EXCHANGE, Adolescent, Cells, 1.1 Normal biological development and functioning, Subventricular zone, Biology, Language Development, Article, CONTRIBUTES, 03 medical and health sciences, Channelopathy, Underpinning research, medicine, Animals, Speech, Humans, Preschool, Oromotor, Epilepsy, Neurology & Neurosurgery, Sodium channel, Sodium, Ferrets, Neurosciences, 3112 Neurosciences, Infant, Voltage-Gated Sodium Channel, IN-VITRO, Perinatal Period - Conditions Originating in Perinatal Period, Stem Cell Research, medicine.disease, Perisylvian polymicrogyria, Megalencephaly, ta3124, Brain Disorders, NEURAL PROGENITORS, HEK293 Cells, 030104 developmental biology, NAV1, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6650abc186a9dd259cef77d8521b9cfTest
https://pure.eur.nl/en/publications/f0512c72-5b9c-43cb-b5a8-7a5a09ef75f5Test

المؤلفون: Minna Männikkö, Ritva Nissi, Lloyd Ruddock, Maiju Welling, Mari Taipale, Sini Skarp, Jaakko Ignatius, Eeva Sliz, Viivi Alaraudanjoki

المساهمون: tyks, vsshp, tyks, vsshp

العلاقة: 12; ARTN e0175474; PLoS ONE; https://www.utupub.fi/handle/10024/168102Test; URN:NBN:fi-fe2021042717023

الإتاحة: https://www.utupub.fi/handle/10024/168102Test

المؤلفون: Inger Johanne Thuestad, Janne Kataja, Jaakko Ignatius, Delphine Héron, Maria Gardberg, Valérie Biancalana, Anders Oldfors, Jocelyn Laporte, Edoardo Malfatti, Norma B. Romero

المساهمون: tyks, vsshp, tyks, vsshp, lastentautioppi, Paediatrics and Adolescent Medicine, biolääketieteen laitos, yhteiset, Institute of Biomedicine, 2607100

العلاقة: ARTN 93; Acta Neuropathologica Communications; https://www.utupub.fi/handle/10024/160990Test; URN:NBN:fi-fe2021042719842

الإتاحة: https://www.utupub.fi/handle/10024/160990Test