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1دورية أكاديمية
المؤلفون: Geneş D., Pekkolay Z., Şimşek M., Saraçoğlu H., Turgut M., Tekeş S., Tuzcu A.K.
مصطلحات موضوعية: C-Peptide, Mody, Monogenic Diabetes, Type 1 Diabetes, Type 2 Diabetes
العلاقة: Acta Endocrinologica; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.4183/aeb.2023.281Test; https://hdl.handle.net/11468/23843Test; 19; 281; 285; 2-s2.0-85186431945; Q4
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2دورية أكاديمية
مصطلحات موضوعية: Children, Family Screening, Treatment, Urea Cycle Mitochondrial Transporter Disorders
العلاقة: European Review for Medical and Pharmacological Sciences; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.26355/eurrev_202403_35601Test; https://hdl.handle.net/11468/23728Test; 28; 1873; 1880; 2-s2.0-85188045410; N/A
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3دورية أكاديمية
المصدر: Nigerian Journal of Clinical Practice ; volume 27, issue 1, page 29-34 ; ISSN 1119-3077 2229-7731
مصطلحات موضوعية: General Medicine
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4دورية أكاديمية
المؤلفون: Neuray C., Maroofian R., Scala M., Sultan T., Pai G. S., Mojarrad M., Khashab H. E., deHoll L., Yue W., Alsaif H. S., Zanetti M. N., Bello O., Person R., Eslahi A., Khazaei Z., Feizabadi M. H., Efthymiou S., El-Bassyouni H. T., Soliman D. R., Tekes S., Ozer L., Baltaci V., Khan S., Beetz C., Amr K. S., Salpietro V., Jamshidi Y., Alkuraya F. S., Houlden H., Mangano S.
المساهمون: Neuray C., Maroofian R., Scala M., Sultan T., Pai G.S., Mojarrad M., Khashab H.E., deHoll L., Yue W., Alsaif H.S., Zanetti M.N., Bello O., Person R., Eslahi A., Khazaei Z., Feizabadi M.H., Efthymiou S., El-Bassyouni H.T., Soliman D.R., Tekes S., Ozer L., Baltaci V., Khan S., Beetz C., Amr K.S., Salpietro V., Jamshidi Y., Alkuraya F.S., Houlden H., Mangano S.
مصطلحات موضوعية: cleft palate, epilepsy, GAD1, muscle weakne, neurodevelopmental delay
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32705143; info:eu-repo/semantics/altIdentifier/wos/WOS:000574313300016; volume:143; issue:8; firstpage:2388; lastpage:2397; numberofpages:10; journal:BRAIN; http://hdl.handle.net/10447/437936Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090075296
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5دورية أكاديمية
المؤلفون: Neuray, C, Maroofian, R, Scala, M, Sultan, T, Pai, GS, Mojarrad, M, El Khashab, H, DeHoll, L, Yue, W, Alsaif, HS, Zanetti, MN, Bello, O, Person, R, Eslahi, A, Khazaei, Z, Feizabadi, MH, Efthymiou, S, SYNaPS Study Group, El-Bassyouni, HT, Soliman, DR, Tekes, S, Ozer, L, Baltaci, V, Khan, S, Beetz, C, Amr, KS, Salpietro, V, Jamshidi, Y, Alkuraya, FS, Houlden, H
المصدر: Brain (2020) (In press).
مصطلحات موضوعية: GAD1, cleft palate, epilepsy, muscle weakness, neurodevelopmental delay
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10106806/1/awaa178.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10106806Test/
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6دورية أكاديمية
المؤلفون: Mehmood, H. (Hassan), Gilman, E. (Ekaterina), Cortes, M. (Marta), Kostakos, P. (Panos), Byrne, A. (Andrew), Valta, K. (Katerina), Tekes, S. (Stavros), Riekki, J. (Jukka)
مصطلحات موضوعية: Big Data, Smart City, data analysis, data lake
وصف الملف: application/pdf
العلاقة: info:eu-repo/grantAgreement/EC/H2020/770469/EU/Coastal Urban developmenT through the LEnses of Resiliency/CUTLER
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7مؤتمر
المؤلفون: Aluclu, M., Unan, F., Tekes, S.
مصطلحات موضوعية: [No Keyword]
العلاقة: Journal of The Neurological Sciences; Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; https://doi.org/10.1016/j.jns.2015.09.090Test; https://hdl.handle.net/11468/15688Test; 357; E446; WOS:000384634802364; Q3
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8دورية أكاديمية
المؤلفون: Akbaş, H., Yalcin, K., Isi, H., Tekes, S., Atay, A.E., Akkus, Z., Budak, T.
المصدر: Brazilian Journal of Medical and Biological Research. November 2012 45(11)
مصطلحات موضوعية: Hepatitis B, Chromosomal aberrations, Mitotic index, p53 gene codon 72 polymorphism
وصف الملف: text/html
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9
المؤلفون: Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R., Eslahi, A., Khazaei, Z., Feizabadi, M. H., Efthymiou, S., El-Bassyouni, H. T., Soliman, D. R., Tekes, S., Ozer, L., Baltaci, V., Khan, S., Beetz, C., Amr, K. S., Salpietro, V., Jamshidi, Y., Alkuraya, F. S., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Synaps, Group, Di Rosa, G., Aguennouz, M., Goraya, J. S., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H.
المساهمون: Neuray C., Maroofian R., Scala M., Sultan T., Pai G.S., Mojarrad M., Khashab H.E., deHoll L., Yue W., Alsaif H.S., Zanetti M.N., Bello O., Person R., Eslahi A., Khazaei Z., Feizabadi M.H., Efthymiou S., El-Bassyouni H.T., Soliman D.R., Tekes S., Ozer L., Baltaci V., Khan S., Beetz C., Amr K.S., Salpietro V., Jamshidi Y., Alkuraya F.S., Houlden H., Mangano S., Dicle Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı, Tekeş, Selahattin, University College of London [London] (UCL), Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), University of Genoa (UNIGE), IRCCS Istituto Giannina Gaslini [Genoa, Italy], Children's Hospital [Lahore], Institute of Child Health [Lahore], Medical University of South Carolina [Charleston] (MUSC), Mashhad University of Medical Sciences, Ain Shams University (ASU), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Khorasan Razavi Agricultural and Natural Resources Research and Education Center, National Research Centre [Cairo, Egypt], Benha University (BU), Dicle University, CENTOGENE AG, University of London [London], King Faisal Specialist Hospital [Riyadh, Saudi Arabia] (Research Centre), SYNaPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Gabriella Di Rosa, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves A Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Brain
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (8), pp.2388-2397. ⟨10.1093/brain/awaa178⟩
Publonsمصطلحات موضوعية: Male, 0301 basic medicine, Glutamate decarboxylase, Malalties cerebrals, Neurotransmissors, Neurodevelopmental delay, Epilepsy, 0302 clinical medicine, MESH: Child, Age of Onset, Child, cleft palate, GAD1, AcademicSubjects/SCI01870, Glutamate Decarboxylase, Glutamate receptor, Muscle weakness, purl.org/becyt/ford/3.1 [https], Neurotransmitters, MESH: Infant, Hypotonia, muscle weakne, Cleft palate, MESH: Epilepsy, Child, Preschool, Muscle Hypotonia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], purl.org/becyt/ford/3 [https], Female, Brain diseases, Abnormalities, medicine.symptom, Multiple, medicine.drug, epilepsy, muscle weakness, neurodevelopmental delay, MESH: Glutamate Decarboxylase, medicine.medical_specialty, MESH: Abnormalities, Multiple, MESH: Mutation, MESH: Age of Onset, Biology, Inhibitory postsynaptic potential, GAD1, cleft palate, epilepsy, muscle weakness, neurodevelopmental delay, gamma-Aminobutyric acid, 03 medical and health sciences, Excitatory synapse, Internal medicine, medicine, Humans, Abnormalities, Multiple, Preschool, Alleles, MESH: Neurodevelopmental Disorders, MESH: Humans, MESH: Muscle Hypotonia, MESH: Alleles, MESH: Child, Preschool, Infant, medicine.disease, MESH: Male, Epilèpsia, Editor's Choice, 030104 developmental biology, Endocrinology, Neurodevelopmental Disorders, Mutation, AcademicSubjects/MED00310, Neurology (clinical), MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Reports
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55108cc53157474a74f1616404044b9dTest
http://hdl.handle.net/11567/1022383Test -
10دورية أكاديمية
المؤلفون: Simsek, S., Tekes, S., Oral, D., Turkyilmaz, A., Isik, B., Isik, M. R., Akkoc, H.
مصطلحات موضوعية: Ace Gene, Chronic Obstructive Pulmonary Disease, Polymorphism
العلاقة: Genetics and Molecular Research; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.4238/2013.April.25.10Test; https://hdl.handle.net/11468/19632Test; 12; 1392; 1398; WOS:000320030100053; 2-s2.0-84876874933; N/A; Q4