المؤلفون: Josephina A. N. Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L. S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L. Loeys

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2056-7944Test

الوصول الحر: https://doaj.org/article/59c29ea90e714804ab5f4038f2662271Test

المؤلفون: Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M. Leal

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)

مصطلحات موضوعية: autosomal recessive, CABP2, hearing impairment, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/cbb5456d32564b2dbad9eab4e1b6f46aTest

المؤلفون: Minna Kraatari-Tiri, Maria K. Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S. Moilanen, Sanna Häkli, Elisa Rahikkala

المصدر: Journal of Clinical Medicine, Vol 11, Iss 7, p 1837 (2022)

مصطلحات موضوعية: TMC1, hearing loss, cochlear implant, hearing rehabilitation, congenital, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/11/7/1837Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/7cb5677262ea4623bb4f06d3872304faTest

المؤلفون: Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández-Jaén, Sara Alvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez-Martínez, Jair Tenorio-Castaño, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P.Y. Billie Au, Rosanna Weksberg

المصدر: AM J HUM GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname

مصطلحات موضوعية: DNA methylation signature, Kabuki syndrome, HNRNPK, RNA processing gene, epigenetics, DNA Methylation, Okamoto syndrome, neurodevelopmental disorder, Hematologic Diseases, Chromatin, Epigenesis, Genetic, episignature, Heterogeneous-Nuclear Ribonucleoprotein K, Phenotype, Vestibular Diseases, Face, Intellectual Disability, Genetics, Humans, Au-Kline syndrome, Abnormalities, Multiple, Genetics (clinical)

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba1707a022519a64f5aad1953051153Test
https://lirias.kuleuven.be/handle/20.500.12942/704570Test

المؤلفون: Elisa Rahikkala, Johanna Julku, Sari Koskinen, Tommi Keski-Filppula, Sanna Häkli, Minna Kraatari-Tiri

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::153d5789004f8b502a75b4def255a09eTest
https://doi.org/10.21203/rs.3.rs-2007051/v1Test

المؤلفون: Minna Kankuri‐Tammilehto, Anna Tervasmäki, Minna Kraatari‐Tiri, Elisa Rahikkala, Katri Pylkäs, Outi Kuismin

المصدر: International journal of cancerREFERENCES. 152(3)

مصطلحات موضوعية: DNA-Binding Proteins, Cancer Research, Oncology, Tumor Suppressor Proteins, Humans, Female, Breast Neoplasms, Cell Cycle Proteins, Genetic Predisposition to Disease, Ataxia Telangiectasia Mutated Proteins, Protein Serine-Threonine Kinases, Alleles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3249ab08cbc5d63a76651d7ebb02c4ccTest
https://pubmed.ncbi.nlm.nih.gov/36161273Test

المؤلفون: Minna Kraatari‐Tiri, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G. Karimiani, Jonna Komulainen‐Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie‐Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B. Toosi, Christopher J. Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida M. Bertoli‐Avella, Peppi Koivunen, Elisa Rahikkala

المصدر: Clinical Genetics

مصطلحات موضوعية: recessive, Syndrome, Prolyl Hydroxylases, HIDEA, Phenotype, intellectual disability, Codon, Nonsense, Catalytic Domain, Intellectual Disability, Genetics, Humans, Muscle Hypotonia, P4HTM, Amino Acids, genes, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f3ff71bbf7b86db1872485b1039de06Test
https://pubmed.ncbi.nlm.nih.gov/35908151Test

المؤلفون: Virpi Glumoff, Harri Rusanen, Johanna Lehtonen, Minna Kraatari, Lazaro Lorenzo, Terhi Partanen, Pirjo Åström, Jie Chen, Mikko Seppänen, Veli-Jukka Anttila, Outi Kuismin, Heikki Kauma, Michaela K. Bode, Olli Vapalahti, Jean-Laurent Casanova, Shen-Ying Zhang, Timo Hautala, Tytti Vuorinen, Antti Vaheri, Nina Hautala, Janna Saarela

المساهمون: Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, University of Helsinki, Medicum, Helsinki One Health (HOH), HUSLAB, Veterinary Microbiology and Epidemiology, Veterinary Biosciences, Olli Pekka Vapalahti / Principal Investigator, Viral Zoonosis Research Unit, Department of Virology, Helsinki University Hospital Area, HUS Inflammation Center, Doctoral Programme in Clinical Research, Infektiosairauksien yksikkö, Janna Saarela / Principal Investigator, Children's Hospital, HUS Children and Adolescents, Clinicum, Department of Medicine

المصدر: Journal of Clinical Immunology

مصطلحات موضوعية: 0301 basic medicine, Orthohantavirus, Encephalomyelitis, viruses, encephalitis, hantavirus, Loss of heterozygosity, Pathogenesis, 0302 clinical medicine, Immunology and Allergy, Encephalitis, Viral, 030212 general & internal medicine, Cells, Cultured, Exome sequencing, virus diseases, 3. Good health, DEFICIENCY, Original Article, Disease Susceptibility, Encephalitis, EXPRESSION, Heterozygote, Hantavirus Infections, Immunology, central nervous system infections, HYPOPITUITARISM, Cell Line, 03 medical and health sciences, genetic diseases, Immunity, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Hantavirus, PUUMALA VIRUS-INFECTION, business.industry, Fibroblasts, medicine.disease, Virology, 030104 developmental biology, HEMORRHAGIC-FEVER, Toll-like receptor 3, 3121 General medicine, internal medicine and other clinical medicine, Mutation, RNA, business, primary immunodeficiency diseases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc39d9066d6c69ad6b3ba4693ec47d55Test
http://hdl.handle.net/10138/320833Test

المؤلفون: Terhi Partanen, Outi Kuismin, Minna Kraatari, Pirjo Åström, Laura Tervonen, Usko Huuskonen, Timo Hautala, Lazaro Lorenzo, Mikko Seppänen, Satu Winqvist, Jie Chen, Janna Saarela, Jean-Laurent Casanova, Tytti Vuorinen, Johanna Lehtonen, Shen-Ying Zhang, Virpi Glumoff

المساهمون: Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, HUSLAB, Janna Saarela / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Children's Hospital, HUS Children and Adolescents, Clinicum, Department of Medicine, Infektiosairauksien yksikkö, HUS Inflammation Center

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: 0301 basic medicine, medicine.disease_cause, 3124 Neurology and psychiatry, Temporal lobe, White matter, 03 medical and health sciences, 0302 clinical medicine, Immunity, Interferon, medicine, Clinical/Scientific Notes, Genetics (clinical), business.industry, 3112 Neurosciences, 1184 Genetics, developmental biology, physiology, medicine.disease, 3. Good health, 030104 developmental biology, Herpes simplex virus, Hemiparesis, medicine.anatomical_structure, Immunology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Encephalitis, medicine.drug, Altered level of consciousness

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b768d3786038d732252fa11ac4c5367eTest
http://hdl.handle.net/10852/83569Test

المؤلفون: Minna Kraatari, Jaakko Niinimäki, Sini Skarp, Jaro Karppinen, Minna Männikkö

المصدر: Spine. 42:1201-1206

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Single-nucleotide polymorphism, Intervertebral Disc Degeneration, 03 medical and health sciences, Bone Marrow, Humans, Medicine, Exome, Orthopedics and Sports Medicine, Allele, Gene, Alleles, Exome sequencing, Aged, Genetics, Lumbar Vertebrae, business.industry, Lumbosacral Region, Modic changes, Middle Aged, Magnetic Resonance Imaging, Phenotype, Spine, 030104 developmental biology, Female, Neurology (clinical), business, Low Back Pain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee3781a9e4725a656d16b49bcbc6e34dTest
https://doi.org/10.1097/brs.0000000000002049Test