-
1دورية أكاديمية
المؤلفون: Nora Pernaa, Salla Keskitalo, Iftekhar Chowdhury, Antti Nissinen, Virpi Glumoff, Riikka Keski-Filppula, Juhani Junttila, Kari K. Eklund, Wenny Santaniemi, Sanna Siitonen, Mikko RJ. Seppänen, Paula Vähäsalo, Markku Varjosalo, Pirjo Åström, Timo Hautala
المصدر: Frontiers in Immunology, Vol 13 (2022)
مصطلحات موضوعية: immune dysregulation, autoimmunity, inborn error in immunity, lymphocyte trafficking, maturation, juvenile idiopathic arthritis, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen
المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: Routine diagnostics, Genetic diagnosis, Exome sequencing, Primary immunodeficiencies, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Mitja I. Kurki, Elmo Saarentaus, Olli Pietiläinen, Padhraig Gormley, Dennis Lal, Sini Kerminen, Minna Torniainen-Holm, Eija Hämäläinen, Elisa Rahikkala, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen–Ebrahim, Heli Helander, Päivi Vieira, Minna Männikkö, Markku Peltonen, Aki S. Havulinna, Veikko Salomaa, Matti Pirinen, Jaana Suvisaari, Jukka S. Moilanen, Jarmo Körkkö, Outi Kuismin, Mark J. Daly, Aarno Palotie
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
4دورية أكاديمية
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
-
5دورية أكاديمية
المؤلفون: Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
-
6
المؤلفون: Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
المساهمون: Institut Català de la Salut, [Maia N, Marques I] Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magãlhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto) Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal. [Ibarluzea N] Biocruces Bizkaia Health Research Institute, Barakaldo, Spain. [Misra-Isrie M] Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. [Koboldt DC] Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA. [Soares G] Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143مصطلحات موضوعية: Discapacitat intel·lectual - Aspectes genètics, Anomalies cromosòmiques, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES]
وصف الملف: application/pdf
-
7
المؤلفون: Tuula Arkkola, Matti Nuutinen, Maria K Haanpää, Marja-Leena Väisänen, Päivi J. Miettinen, Katariina Latva, Päivi Myllynen, Riikka Keski-Filppula, Kari Kaunisto, Virpi Sidoroff, Pekka Valmari, Johanna Uusimaa, Elisa Rahikkala, Irina I Nagy, Marja Ojaniemi, Päivi Vieira
المساهمون: HYKS erva, Päijät-Häme Welfare Consortium, Centre of Excellence in Stem Cell Metabolism, HUS Children and Adolescents, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Children's Hospital
مصطلحات موضوعية: Adult, pediatrics, seizure, CHILDHOOD, Physiology, Ketone Bodies, Hypoglycemia, Compound heterozygosity, HEPATIC GLUCONEOGENESIS, HYPOGLYCEMIA, PCK1, Ketogenesis, Genetics, medicine, Humans, Hypoglycemic Agents, Child, Genetics (clinical), business.industry, pck1, Neonatal hypoglycemia, Liver Diseases, 1184 Genetics, developmental biology, physiology, PROFILES, medicine.disease, Phenotype, gluconeogenesis, 3121 General medicine, internal medicine and other clinical medicine, Ketone bodies, Phosphoenolpyruvate Carboxykinase (GTP), citric acid cycle, business, Phosphoenolpyruvate carboxykinase, Urine organic acids, Carbohydrate Metabolism, Inborn Errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d20a81f8a7091a7775f554f28b632014
http://hdl.handle.net/10138/353343 -
8
المؤلفون: Rita Horvath, Angela Pyle, Maria Suo-Palosaari, Hannaleena Kokkonen, Anna-Elina Lehesjoki, Päivi Vieira, Oula Knuutinen, Salla M. Kangas, Tawfiq Froukh, James Cassidy, Johanna Uusimaa, Riikka Keski-Filppula, Latifa Maraqa, Jennifer Duff
مصطلحات موضوعية: business.industry, Immunology, Medicine, business, Phenotype
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8da0747f473a88c8b92d50bc8bbd225d
https://doi.org/10.1111/cge.13827/v2/response1 -
9
المؤلفون: Kristiina Avela, Johanna Lehtonen, Henrikki Almusa, Jukka S. Moilanen, Eveliina Jakkula, Kristiina Aittomäki, Sirpa Kivirikko, Anna H. Hakonen, Janna Saarela, Reetta Kivisaari, Riikka Keski-Filppula
المصدر: American journal of medical genetics. Part AREFERENCES. 182(11)
مصطلحات موضوعية: Male, medicine.medical_specialty, Heterozygote, Contracture, Genes, Recessive, Vertebral anomalies, Compound heterozygosity, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Exome sequencing, 030304 developmental biology, Muscle contracture, Arthrogryposis, 0303 health sciences, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, business.industry, Siblings, 030305 genetics & heredity, Genetic Variation, Sequence Analysis, DNA, medicine.disease, Dermatology, eye diseases, 3. Good health, Pedigree, Cytoskeletal Proteins, Phenotype, Scoliosis, Child, Preschool, Mutation, Lordosis, Skin Abnormalities, Female, Multiple pterygium syndrome, Differential diagnosis, medicine.symptom, business, Malignant Hyperthermia, Gene Deletion
-
10
المؤلفون: Robert Winqvist, Outi Kuismin, Susanna Koivuluoma, Katri Pylkäs, Jukka S. Moilanen, Riikka Keski-Filppula
المصدر: Genetics in Medicine
مصطلحات موضوعية: Oncology, medicine.medical_specialty, Genotype, media_common.quotation_subject, Nonsense, Medical laboratory, MEDLINE, Breast Neoplasms, polyposis, MLH3, Brief Communication, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, medicine, Humans, Genetics (clinical), 030304 developmental biology, media_common, 0303 health sciences, business.industry, medicine.disease, Human genetics, Germ Cells, MutL Proteins, Codon, Nonsense, 030220 oncology & carcinogenesis, biallelic germline variant, business, Colorectal Neoplasms