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1دورية أكاديمية
المؤلفون: Anna Malekkou, Marios Tomazou, Gavriella Mavrikiou, Maria Dionysiou, Theodoros Georgiou, Ioannis Papaevripidou, Angelos Alexandrou, Carolina Sismani, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: DPYD, Dihydropyrimidine dehydrogenase, Fluoropyrimidines, Copy number variants, Deletion, Toxicity, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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2دورية أكاديمية
المؤلفون: Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou
المصدر: Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101083- (2024)
مصطلحات موضوعية: Inherited metabolic disorders, Inborn errors of metabolism, Selective screening, Registry, Prevalence, Cyprus, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000363Test; https://doaj.org/toc/2214-4269Test
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3دورية أكاديمية
المؤلفون: Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: classic galactosemia, brain, galactose, cognitive problems, neurodevelopment, movement disorders, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1355962/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H. Jacobs, George J.G. Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou, Anthi Drousiotou, Olga Grafakou, Petros P. Petrou
المصدر: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100997- (2023)
مصطلحات موضوعية: Glycogen storage disorder, Pompe disease, Exome sequencing, Case report, Variants, Acid alpha glucosidase, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000435Test; https://doaj.org/toc/2214-4269Test
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5دورية أكاديمية
المؤلفون: Ioannis Zaganas, Pelagia Vorgia, Martha Spilioti, Lambros Mathioudakis, Maria Raissaki, Stavroula Ilia, Melpomeni Giorgi, Irene Skoula, Georgios Chinitrakis, Kleita Michaelidou, Evangelos Paraskevoulakos, Olga Grafakou, Chariklia Kariniotaki, Thekla Psyllou, Spiros Zafeiris, Maria Tzardi, George Briassoulis, Argirios Dinopoulos, Panayiotis Mitsias, Athanasios Evangeliou
المصدر: Epilepsy & Behavior Reports, Vol 16, Iss , Pp 100477- (2021)
مصطلحات موضوعية: Epilepsy, Genetics, Whole exome sequencing, Next-generation sequencing, Inherited epilepsy, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589986421000514Test; https://doaj.org/toc/2589-9864Test
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المؤلفون: Pelagia Vorgia, Ioannis Zaganas, Georgios Chinitrakis, Athanasios Evangeliou, Panayiotis Mitsias, E. Paraskevoulakos, Argirios Dinopoulos, Kleita Michaelidou, George Briassoulis, Maria Raissaki, Martha Spilioti, Chariklia Kariniotaki, M. Giorgi, Olga Grafakou, Irene Skoula, Stavroula Ilia, Spiros Zafeiris, Thekla Psyllou, Lambros Mathioudakis, Maria Tzardi
المصدر: Epilepsy & Behavior Reports, Vol 16, Iss, Pp 100477-(2021)
مصطلحات موضوعية: Genetics, Neurophysiology and neuropsychology, Epilepsy, business.industry, QP351-495, Whole exome sequencing, medicine.disease, Compound heterozygosity, Glycine encephalopathy, Lafora disease, Behavioral Neuroscience, Inherited epilepsy, Neurology, Epilepsy syndromes, Next-generation sequencing, Medicine, Missense mutation, STXBP1, Neurology (clinical), Neurology. Diseases of the nervous system, business, RC346-429, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2738ce310dc212eb8f70bba1b4898aa8Test
http://www.sciencedirect.com/science/article/pii/S2589986421000514Test -
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المؤلفون: Eftherpi Dalpa, Martha Spilioti, Astrinia Skarpalezou, Dimitrios Tsiptsios, Athanasios Evangeliou, Irene Katsanika, Olga Grafakou, Maria Papadopoulou
المصدر: Biomedical Journal of Scientific & Technical Research. 20
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine.medical_treatment, social sciences, General Medicine, Carbohydrate metabolism, medicine.disease, Low glycemic index, Epilepsy, Glycemic index, medicine, Ketone bodies, business, Intractable seizures, Ketogenic diet
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::646654dbf8c06c7d7bd83ffcf7d0a6bbTest
https://doi.org/10.26717/bjstr.2019.20.003438Test -
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المؤلفون: Evangelos Pavlou, Athanasios Evangeliou, Argyrios Dinopoulos, Efimia Papadopoulou-Alataki, Martha Spilioti, Anastasia Gkampeta, Olga Grafakou, Maria Gogou, Irene Katsanika
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 20(4)
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Weaning, Humans, Child, Valproic Acid, business.industry, Infant, General Medicine, Ketosis, medicine.disease, Combined Modality Therapy, Future study, 030104 developmental biology, Anesthesia, Child, Preschool, Pediatrics, Perinatology and Child Health, Anticonvulsants, Female, Neurology (clinical), business, Diet, Ketogenic, 030217 neurology & neurosurgery, Intractable seizures, medicine.drug, Ketogenic diet
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e7a8f5b009bcf896a31a6004ff984d0Test
https://pubmed.ncbi.nlm.nih.gov/27117552Test -
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المؤلفون: Maria Moustaki, Petros M. Zeis, Themistocles Karpathios, Maria Katsikari, Maria Tsolia, Olga Grafakou, Andrew Fretzayas, S. Stabouli, Polyxeni Nicolaidou
المصدر: Pediatric Pulmonology. 35:269-273
مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, Abdominal pain, medicine.medical_specialty, Adolescent, Radiography, medicine, Humans, Mesenteric lymph nodes, Mesentery, Child, Lymphatic Diseases, Ultrasonography, business.industry, Pneumonia, Pneumococcal, medicine.disease, Abdominal Pain, Pneumonia, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Lobar pneumonia, Population study, Female, Lymph Nodes, Lymph, Radiology, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d9a55d81024374c18212f83f88489faTest
https://doi.org/10.1002/ppul.10254Test -
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المؤلفون: Regina Ensenauer, Marloes H. Siers, H.J. ter Laak, Jan A.M. Smeitink, C. Boelen, Frans J.M. Trijbels, Frans A. Hol, Olga Grafakou, K Otfried Schwab
المصدر: Journal of Inherited Metabolic Disease, 26, 593-600
Journal of Inherited Metabolic Disease, 26, 6, pp. 593-600مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Mitochondrial disease, Respiratory chain, Pain, Physical exercise, Exercise intolerance, Biology, DNA, Mitochondrial, Electrocardiography, Muscular Diseases, Mitochondrial myopathy, Evoked Potentials, Somatosensory, Internal medicine, Genetics, medicine, Humans, Muscle, Skeletal, RNA, Transfer, Ser, Genetics (clinical), Exercise Tolerance, Muscle biopsy, medicine.diagnostic_test, Electromyography, Reverse Transcriptase Polymerase Chain Reaction, Brain, Skeletal muscle, Electroencephalography, Fibroblasts, medicine.disease, Magnetic Resonance Imaging, Heteroplasmy, Tumor microenvironment [UMCN 1.3], Endocrinology, medicine.anatomical_structure, Genetic defects of metabolism [UMCN 5.1], Evoked Potentials, Auditory, Acidosis, Lactic, Female, medicine.symptom, Cellular energy metabolism [UMCN 5.3], Oxidation-Reduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c99d51ecbaff1672f10393aa23a7504dTest
https://doi.org/10.1023/a:1025960300710Test