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1دورية أكاديمية
المؤلفون: Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديمية
المؤلفون: Artemios, Pehlivanidis (ORCID
0000-0002-3328-6258 ), Areti, Spyropoulou, Katerina, Papanikolaou, Helen, Fryssira, Eirini, Tsoytsoy, Charalambos, Papageorgiouالمصدر: Journal of Autism and Developmental Disorders. Jul 2019 49(7):3031-3035.
تمت مراجعته من قبل الزملاء: Y
Page Count: 5
الواصفات: Autism, Pervasive Developmental Disorders, Genetic Disorders, Comorbidity, Patients, Clinical Diagnosis, Etiology
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3
المؤلفون: Flieger Ioannis, Helen Fryssira, Sophia Kitsiou, Michael Chistodoulou, Kontogeorgakos Vasileios
المصدر: Acta Scientific Orthopaedics. 4:68-73
مصطلحات موضوعية: medicine, Frame (artificial intelligence), FLNB, General Medicine, Larsen syndrome, Anatomy, medicine.disease, Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e3cca5d75de3db1b60d1aee85d6996efTest
https://doi.org/10.31080/asor.2021.04.0297Test -
4
المؤلفون: Sophia Polychronopoulou, Ariadni Kalpini-Mavrou, Loizos Petrikkos, Konstantinos Tsitsikas, Charikleia Kelaidi, Vasiliki Tzotzola, Helen Fryssira, Nikoletta Selenti, Alexandros Makis, Vassiliki Kitra, Eleni-Dikaia Ioannidou, Kondilia Antoniadi
المصدر: Journal of Pediatric Hematology/Oncology. 41:612-617
مصطلحات موضوعية: Male, medicine.medical_specialty, Myeloid, Adolescent, medicine.medical_treatment, Hematopoietic stem cell transplantation, Risk Assessment, Gastroenterology, Disease-Free Survival, 03 medical and health sciences, 0302 clinical medicine, Fanconi anemia, hemic and lymphatic diseases, Internal medicine, medicine, Humans, Cumulative incidence, Child, Survival rate, Retrospective Studies, business.industry, Bone marrow failure, Infant, Hematology, medicine.disease, Survival Rate, Leukemia, Myeloid, Acute, Leukemia, Fanconi Anemia, medicine.anatomical_structure, Oncology, Dysplasia, Child, Preschool, Myelodysplastic Syndromes, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Androgens, Female, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c18ab3bf053e9eefab3c7e139c98ee9Test
https://doi.org/10.1097/mph.0000000000001549Test -
5
المؤلفون: Christalena Sofocleous, Joanne Traeger-Synodinos, Maria Svingou, Konstantina Kosma, Eirini Tsoutsou, Faidon-Nikolaos Tilemis, Danai Veltra, Helen Fryssira, Nikolaos Marinakis, Kyriaki Kekou
المصدر: American journal of medical genetics. Part AREFERENCES. 185(8)
مصطلحات موضوعية: 0301 basic medicine, Male, Genetic counseling, Clinical Decision-Making, Context (language use), Computational biology, Disease, 030105 genetics & heredity, Biology, Genetic analysis, Workflow, 03 medical and health sciences, Rare Diseases, Genotype, Genetic variation, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetics (clinical), Exome sequencing, Genetic Association Studies, Genetic Diseases, Inborn, Disease Management, Genetic Variation, High-Throughput Nucleotide Sequencing, 030104 developmental biology, Phenotype, Identification (biology), Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59c07500fc699b507557ab0d1ab874dTest
https://pubmed.ncbi.nlm.nih.gov/34008892Test -
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المؤلفون: Eleftheria Kokkinou, Maria Tzetis, Irene Fylaktou, Konstantina Kosma, Myrto Poulou, Sofia Kitsiou-Tzeli, Maria Tsipi, Helen Fryssira, Maria-Roser Pons, Eirini Tsoutsou
المصدر: Journal of the Neurological Sciences. 395:95-105
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Neurofibromatosis 1, Adolescent, Biology, DNA sequencing, Young Adult, 03 medical and health sciences, Exon, symbols.namesake, Genotype, medicine, Humans, Computer Simulation, Genetic Testing, Multiplex ligation-dependent probe amplification, Neurofibromatosis, Child, Gene, Genetic Association Studies, Genetics, Sanger sequencing, Neurofibromin 1, Computational Biology, High-Throughput Nucleotide Sequencing, Infant, Middle Aged, medicine.disease, genomic DNA, Phenotype, 030104 developmental biology, Neurology, Child, Preschool, Mutation, symbols, Female, Neurology (clinical), Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de8ba45fffab83d3c6f2abf48a45c8bTest
https://doi.org/10.1016/j.jns.2018.10.006Test -
7دورية أكاديمية
المؤلفون: Artemios, Pehlivanidis, Areti, Spyropoulou, Katerina, Papanikolaou, Helen, Fryssira, Eirini, Tsoytsoy, Charalambos, Papageorgiou
المصدر: Journal of Autism and Developmental Disorders ; volume 49, issue 7, page 3031-3035 ; ISSN 0162-3257 1573-3432
مصطلحات موضوعية: Developmental and Educational Psychology
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المؤلفون: Roser Pons, Christalena Sofocleus, Belén Pérez-Dueñas, Danae Veltra, Katerina Anagnostopoulou, Vasiliki Zouvelou, Helen Fryssira, Rafael Artuch, Elissavet Kollia, Anna Marcé-Grau, Manolis Bilanakis, Xaralabos Kokkinis, Loukia Apostolakopoulou, Filippo M. Santorelli, Judith Amstrong, Kiriaki Kekou, Rosa J. Torres, Eleftheria Kokkinou, Delia Yubero, Antonis Voutetakis, Ioannis Nikas, Zoi Dalivigka, Alfons Macaya
المصدر: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Male, Microcephaly, Pediatrics, medicine.medical_specialty, Ataxia, Hereditary spastic paraplegia, Genetic counseling, Motor Disorders, Cerebral palsy, Diagnosis, Differential, Tertiary Care Centers, 03 medical and health sciences, 0302 clinical medicine, Chorea, 030225 pediatrics, medicine, Spastic, Humans, Spasticity, Child, Retrospective Studies, Greece, business.industry, Cerebral Palsy, Precision medicine, General Medicine, medicine.disease, Dystonia, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::061e66e282afea246d40f68d5994afbbTest
https://pubmed.ncbi.nlm.nih.gov/30799092Test -
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المؤلفون: Mohnish Suri, Karl Heinimann, Usha Kini, Aude-Annick Suter, Peter Itin, Sabina Gallati, Pablo Lapunzina, Helen Fryssira, Peter Miny, Mette Sommerlund, Munaza Ahmed, Tazeen Ashraf, Pradeep C. Vasudevan, Signe Vaeth
المساهمون: University of Zurich, Gallati, Sabina
المصدر: Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine, 4(3), pp. 359-366. Wiley 10.1002/mgg3.209 <http://dx.doi.org/10.1002/mgg3.209Test>
Molecular Genetics & Genomic Medicine
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Suter, A-A, Itin, P, Heinimann, K, Ahmed, M, Ashraf, T, Fryssira, H, Kini, U, Lapunzina, P, Miny, P, Sommerlund, M, Suri, M, Væth, S, Vasudevan, P & Gallati, S 2016, ' Rothmund-Thomson Syndrome : novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene ', Molecular Genetics & Genomic Medicine, vol. 4, no. 3, pp. 359-366 . https://doi.org/10.1002/mgg3.209Testمصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, POIKILODERMA, PROTEIN, 610 Medicine & health, Poikiloderma, 030105 genetics & heredity, Biology, Bioinformatics, medicine.disease_cause, Rothmund–Thomson Syndrome, 03 medical and health sciences, symbols.namesake, Exon, Genotype-phenotype distinction, 1311 Genetics, MITOCHONDRIA, USB1 (C16orf57) gene, NEUTROPENIA, 1312 Molecular Biology, RECQL4 gene, Genetics, medicine, Molecular Biology, Rothmund–Thomson syndrome, Gene, Genetics (clinical), Sanger sequencing, Mutation, Rothmund-Thomson Syndrome, Original Articles, medicine.disease, 030104 developmental biology, Poikiloderma with neutropenia, OSTEOSARCOMA, symbols, 570 Life sciences, biology, Original Article, Dyskeratosis congenita
وصف الملف: application/pdf; mgg3.209.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8633f5f54839e0c3ed927facac48bec8Test
https://doi.org/10.1002/mgg3.209Test -
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المؤلفون: Helen Fryssira, Christalena Sofocleous, Emmanuel Kanavakis, Catherine Dacou-Voutetakis, Margarita Anapliotou, George P. Chrousos, Nikolaos Settas, Antonis Voutetakis
المصدر: Menopause. 22:1264-1268
مصطلحات موضوعية: Forkhead Box Protein L2, medicine.medical_specialty, DNA Mutational Analysis, Primary ovarian insufficiency, Blepharophimosis, Primary Ovarian Insufficiency, Bioinformatics, FOXL2 Gene, Ptosis, Internal medicine, medicine, Humans, Point Mutation, Autoimmune endocrine disorder, Family Health, business.industry, Epicanthus inversus, Eyelids, Obstetrics and Gynecology, Forkhead Transcription Factors, Syndrome, Middle Aged, medicine.disease, Phenotype, Endocrinology, Mutation (genetic algorithm), Skin Abnormalities, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c45d53a46912b5c9615d3eafbbedd18Test
https://doi.org/10.1097/gme.0000000000000473Test