المؤلفون: Svetlana Vakkilainen, Laura Puhakka, Paula Klemetti, Kaarina Heiskanen, Mikko Seppänen, Mikko Muona, Celine Posseme, Darragh Duffy, Timo Väisänen, Outi Elomaa, Maarit Palomäki, Harri Saxén, Annamari Ranki, Katariina Hannula-Jouppi

المصدر: Acta Dermato-Venereologica, Vol 99, Iss 9, Pp 789-796 (2019)

مصطلحات موضوعية: desmoglein, desmoplakin, metabolic wasting, SAM syndrome, severe dermatitis, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3203Test; https://doaj.org/toc/0001-5555Test; https://doaj.org/toc/1651-2057Test

الوصول الحر: https://doaj.org/article/ea51798fe2ea4e9f8834bf9e0e71c48cTest

المؤلفون: Juuso Paajanen, Maija Halme, Maarit Palomäki, Veli-Jukka Anttila

المصدر: Medical Mycology Case Reports, Vol 24, Iss , Pp 37-40 (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2211753919300223Test; https://doaj.org/toc/2211-7539Test

الوصول الحر: https://doaj.org/article/57bfb662494d43e580c04c4af1753a40Test

المؤلفون: Filip Scheperjans, Heli Silvennoinen, Satu Mustanoja, Maarit Palomäki, Nina Forss

المصدر: Case Reports in Neurology, Vol 3, Iss 3, Pp 233-238 (2011)

مصطلحات موضوعية: Thrombolysis, CT, CT angiography, Malignant stroke, Neuroradiology, Perfusion imaging, Postictal state, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.karger.com/Article/FullText/333104Test; https://doaj.org/toc/1662-680XTest

الوصول الحر: https://doaj.org/article/83f39039468f40429578fa2b1aea883eTest

المؤلفون: Juha Wilenius, Jyrki P. Mäkelä, Jukka Lyytinen, Anders Paetau, Maarit Palomäki, Eero Pekkonen

المصدر: Case Reports in Neurology, Vol 2, Iss 3, Pp 122-127 (2010)

مصطلحات موضوعية: Creutzfeldt-Jakob disease, Prion disease, Transmissible spongiform encephalopathy, Magnetoencephalography, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.karger.com/Article/FullText/321349Test; https://doaj.org/toc/1662-680XTest

الوصول الحر: https://doaj.org/article/fa6584fd0de1462db86069a7e4429df1Test

المؤلفون: Eeva Kokkola, Riina Niemensivu, Maija Lappalainen, Maarit Palomäki, Tea Nieminen, Suresh Boppana, Harri Saxèn, Laura Puhakka

المساهمون: HUS Children and Adolescents, Children's Hospital, HUS Head and Neck Center, Korva-, nenä- ja kurkkutautien klinikka, Clinicum, HUSLAB, Department of Virology, HUS Diagnostic Center, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics

مصطلحات موضوعية: Sensorineural hearing loss, Otorhinolaryngology, Congenital cytomegalovirus infection, The video head impulse test, General Medicine, 3125 Otorhinolaryngology, ophthalmology, Vestibular dysfunction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4295b39364de336bbed003787972c847Test
http://hdl.handle.net/10138/358411Test

المؤلفون: Erika Ignatius, Riina Puosi, Maarit Palomäki, Noora Forsbom, Max Pohjanpelto, Tiina Alitalo, Anna-Kaisa Anttonen, Kristiina Avela, Leena Haataja, Christopher J. Carroll, Tuula Lönnqvist, Pirjo Isohanni

المساهمون: HUS Children and Adolescents, Research Programs Unit, Lastenneurologian yksikkö, STEMM - Stem Cells and Metabolism Research Program, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, HUS Diagnostic Center, Silmäklinikka, HUS Head and Neck Center, HUSLAB, Medicum, Anna-Elina Lehesjoki / Principal Investigator, Department of Medical and Clinical Genetics, Children's Hospital, Clinicum, Anu Wartiovaara / Principal Investigator

مصطلحات موضوعية: EBF3, EBF3-NDD, Mosaicism, DATABASE, Gene Dosage, 3112 Neurosciences, General Medicine, VARIANTS, 3124 Neurology and psychiatry, HADDS, Phenotype, Neurodevelopmental Disorders, 3123 Gynaecology and paediatrics, 10q26, Pediatrics, Perinatology and Child Health, Humans, Ataxia, Neurology (clinical), Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2919903b1dd7d6c009bfb38f915347d3Test
http://hdl.handle.net/10138/344224Test

المؤلفون: Auli Verkkoniemi-Ahola, Jussi O.T. Sipilä, Eeva Auvinen, Maarit Palomäki, Marge Kartau

المصدر: Degenerative Neurological and Neuromuscular Disease. 9:109-121

مصطلحات موضوعية: Oncology, medicine.medical_specialty, medicine.drug_class, JC virus, Monoclonal antibody, medicine.disease_cause, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Natalizumab, Immune system, Internal medicine, Epidemiology, medicine, 0501 psychology and cognitive sciences, business.industry, Multiple sclerosis, Progressive multifocal leukoencephalopathy, 05 social sciences, virus diseases, medicine.disease, 3. Good health, business, Risk assessment, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d44efc8989089ddcc3385872bafa6e50Test
https://doi.org/10.2147/dnnd.s203405Test

المؤلفون: Anni Saarela, Suzanne M. Leal, Juha Leppälä, Lorida Llaci, Minna Kankuri-Tammilehto, Anushree Acharya, Tuomo Määttä, Jennifer E. Posey, Diana M Cornejo-Sanchez, Irma Järvelä, James R. Lupski, Auli Siren, Ritva Paetau, Angad Jolly, Tarja Linnankivi, Shalini N. Jhangiani, Teppo Varilo, Jan Olme, Liz M Nouel-Saied, Trevor D. Hadley, Isabelle Schrauwen, Hannaleena Kokkonen, Reetta Kälviäinen, Maarit Palomäki, Mary Fang, Maria Arvio

المساهمون: Tampere University, Kanta-Häme Central Hospital Hämeenlinna, Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, HYKS erva, Päijät-Häme Welfare Consortium, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, HUS Children and Adolescents, Children's Hospital, Lastenneurologian yksikkö, Clinicum

المصدر: Human Genetics

مصطلحات موضوعية: Male, Genotype, Genes, Recessive, Biology, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Exome, Family, Genetic Predisposition to Disease, Gene, Finland, Genetics (clinical), Exome sequencing, Original Investigation, 030304 developmental biology, 0303 health sciences, Homozygote, 1184 Genetics, developmental biology, physiology, Karyotype, medicine.disease, Uniparental disomy, Human genetics, Pedigree, Female, 3111 Biomedicine, 030217 neurology & neurosurgery, Founder effect

وصف الملف: fulltext; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8475d41092b52fce48df5ff7c780b5dTest
https://trepo.tuni.fi/handle/10024/132380Test

المؤلفون: S. Karger Ag, Or Postictal Deficit, Filip Scheperjans, Heli Silvennoinen, Satu Mustanoja, Maarit Palomäki B, Nina Forss A, State Thrombolysis

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/1a/fb/Case_Rep_Neurol_2011_Oct_2_3(3)_233-238.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.286.9750Test

المؤلفون: Pirjo Isohanni, Catalina Vasilescu, Christopher Carroll, Anu Suomalainen, Helena Pihko, Maarit Palomäki

المصدر: European Journal of Human Genetics. 25:366-370

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Active Transport, Cell Nucleus, Short Report, Leukoencephalopathy, White matter, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, Heat shock protein, Genetics, medicine, Humans, HSP70 Heat-Shock Proteins, Cells, Cultured, Genetics (clinical), Cell Nucleus, Membrane Glycoproteins, Protein Stability, business.industry, Endoplasmic reticulum, DNAJC19, Infant, medicine.disease, 3. Good health, Hereditary Central Nervous System Demyelinating Diseases, Cell nucleus, 030104 developmental biology, medicine.anatomical_structure, Carrier Proteins, Oxidoreductases, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e7b43f0b6829f1c85fbaacdf9ad900Test
https://doi.org/10.1038/ejhg.2016.189Test