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1دورية أكاديمية
المؤلفون: Kim Gall, Julie Hathaway, Lotta Koskinen, Kirsi Alakurtti, Äsa Hagström, Monica Segura, Heli Kuisma, Eija Seppala, Janica Djupsjöbacka, Mikko Muona, Tuuli Pietila, Pertteli Salmenperä, Inka Saarinen, Ray Veeraraghavan, Samuel Myllykangas, Juha Koskenvuo
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101528- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)
مصطلحات موضوعية: knee, patella, RAB23, TGFβ2, scleraxis, GLI1, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Alicia Scocchia, Allison Sluyters, Margarita Andreevskaya, Kirsi Alakurtti, Paivi Kokkonen, Kimberly Gall, Julie Hathaway, Victoria Howell, Lotta Koskinen, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100601- (2023)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Kimberly Gall, Emanuela Izzo, Eija H Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo
المصدر: PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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5
المؤلفون: Lotta L. E. Koskinen, Emanuela Izzo, Eija H. Seppälä, Tero-Pekka Alastalo, Kirsi Alakurtti, Kimberly Gall, Akashdeep Singh, Juha Koskenvuo
المصدر: Molecular Genetics and Metabolism. 132:S100-S101
مصطلحات موضوعية: Middle East, medicine.diagnostic_test, business.industry, Endocrinology, Diabetes and Metabolism, Yield (finance), Biochemistry, Seizure onset, Endocrinology, Genetics, medicine, business, Molecular Biology, Demography, Genetic testing
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6
المؤلفون: Emanuela Izzo, Samuel Myllykangas, Inka Saarinen, Kimberly Gall, Kirsi Alakurtti, Lotta L. E. Koskinen, Tero-Pekka Alastalo, Eija H. Seppälä, Akashdeep Singh, Juha Koskenvuo
المصدر: PLoS ONE, Vol 16, Iss 9, p e0255933 (2021)
PLoS ONEمصطلحات موضوعية: Male, Pediatrics, Social Sciences, Disease, Diagnostic Radiology, Motor Neuron Diseases, Cohort Studies, Epilepsy, Child Development, Medical Conditions, Medicine and Health Sciences, Psychology, Age of Onset, Medical diagnosis, Language, Movement Disorders, Multidisciplinary, Tripeptidyl-Peptidase 1, medicine.diagnostic_test, Radiology and Imaging, High-Throughput Nucleotide Sequencing, Neurodegenerative Diseases, Magnetic Resonance Imaging, Neuronal Ceroid Lipofuscinosis Type 2, Neurology, Child, Preschool, Speech delay, Cohort, Medicine, Medical genetics, Female, medicine.symptom, Research Article, medicine.medical_specialty, DNA Copy Number Variations, Imaging Techniques, Science, Research and Analysis Methods, Diagnostic Medicine, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Humans, Genetic Testing, Genetic testing, business.industry, Cognitive Psychology, Biology and Life Sciences, Infant, Human Genetics, medicine.disease, Cognitive Science, Ataxia, business, Neuroscience
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7
المؤلفون: Kirsi Alakurtti, Eija H. Seppälä, Lotta L. E. Koskinen, Khalida Liaquat, Tero-Pekka Alastalo, Juha Koskenvuo, Akashdeep Singh, Kim Gall, Emmanuela Izzo
المصدر: Molecular Genetics and Metabolism. 132:S59
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Endocrinology, Diabetes and Metabolism, Yield (finance), Biochemistry, Seizure onset, Endocrinology, Genetics, medicine, business, Molecular Biology, Genetic testing
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8
المؤلفون: Lotta L. E. Koskinen, Emanuela Izzo, Kirsi Alakurtti, Eija H. Seppälä, Tero-Pekka Alastalo, Kimberly Gall, Juha Koskenvuo
المصدر: Molecular Genetics and Metabolism. 129:S80
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Biochemistry, Epilepsy, Seizure onset, Endocrinology, Gene panel, Genetics, medicine, business, Molecular Biology, Genetic testing
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9
المؤلفون: Mervi Kuronen, Saara Tegelberg, Laura Huopaniemi, Antti P. Aalto, Nina Aula, Paula Hakala, Roberto Michellucci, Kirsi Alakurtti, Anna-Elina Lehesjoki, Tarja Joensuu, Kai Eriksson
المصدر: European Journal of Human Genetics. 15:185-193
مصطلحات موضوعية: Male, DNA Mutational Analysis, Gene Expression, Progressive myoclonus epilepsy, Biology, medicine.disease_cause, Polymerase Chain Reaction, 03 medical and health sciences, 0302 clinical medicine, Unverricht-Lundborg Syndrome, Genetics, medicine, Humans, Protein Isoforms, Missense mutation, Cystatin B, RNA, Messenger, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Homozygote, Alternative splicing, Myoclonic Epilepsies, Progressive, medicine.disease, Cystatins, Unverricht–Lundborg disease, Alternative Splicing, RNA splicing, Female, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Microsatellite Repeats
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10
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, animal structures, Acrocephalosyndactylia, Kruppel-Like Transcription Factors, Calvaria, Core Binding Factor Alpha 1 Subunit, Nerve Tissue Proteins, Smad Proteins, Biology, Biochemistry, Craniosynostosis, Mesoderm, 03 medical and health sciences, Mice, Zinc Finger Protein Gli3, Internal medicine, GLI3, Mesenchymal cell proliferation, Matrix Metalloproteinases, Secreted, medicine, Animals, Humans, Molecular Biology, 030304 developmental biology, Zinc finger transcription factor, Homeodomain Proteins, 0303 health sciences, Osteoblasts, 030302 biochemistry & molecular biology, fungi, Skull, Cell Differentiation, Cell Biology, DLX5, musculoskeletal system, medicine.disease, Mice, Mutant Strains, Cell biology, RUNX2, medicine.anatomical_structure, Endocrinology, embryonic structures, Developmental Biology, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea4680358ee8e823986ddbbb6d7f3090
https://europepmc.org/articles/PMC3375564/