-
1دورية أكاديمية
المؤلفون: Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath
المصدر: iScience, Vol 24, Iss 1, Pp 101948- (2021)
مصطلحات موضوعية: Biological Sciences, Neuroscience, Molecular Neuroscience, Clinical Neuroscience, Systems Biology, Protemics, Science
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589004220311457Test; https://doaj.org/toc/2589-0042Test
-
2
المؤلفون: Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello
المصدر: The American Journal of Human Genetics. 110:681-690
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55945c53254c4d34de031af05e90375aTest
https://doi.org/10.1016/j.ajhg.2023.03.005Test -
3
المؤلفون: Rita Horvath, Reza Maroofian, Juliane S Müller, Yavuz Oktay, Mahmut Aslan, Ashwati Nair, Uluç Yiş, Emily O'Heir, Elmasnur Yilmaz, Ana Töpf, Henry Houlden, Steven Laurie, Bilge Özgör, Sergi Beltran, Pinar Edem, K. Polavarapu, Fei Gao, Serdal Güngör, Nur Arslan, Andreas Roos, Hanns Lochmüller, Leslie Matalonga, Katherine Schon, Alysia Kern Lovgren, Angela Lochmüller, Patrick F. Chinnery, Nóra Zs Szabó, Denisa Hathazi, Ida Paramonov, Aliz Rieger, Ahmet Yaramis, Ece Sonmezler, Semra Hız Kurul, Ipek Kalafatcilar, Burcu Ekinci
المساهمون: Houlden, Henry [0000-0002-2866-7777], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Brain
مصطلحات موضوعية: Consanguinitat, Population, Medizin, Prevalence, Consanguinity, rate of consanguinity, Compound heterozygosity, DNA sequencing, whole exome sequencing, neurogenetic disease burden, Exome Sequencing, Medicine, Humans, Exome, education, Gene, Exome sequencing, Genetics, consanguineous families, education.field_of_study, business.industry, Homozygote, Pedigree, Phenotype, Cohort, Mutation, Neurology (clinical), Neurogenètica, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5e400847ded38fef658522e2ef5a88Test
https://avesis.deu.edu.tr/publication/details/de485db7-555e-4eea-9a2b-8423075ec9c4/oaiTest -
4
المؤلفون: Uluç Yiş, Lena Zeltner, Ahmet Yaramis, Ece Sonmezler, Elmasnur Yilmaz, Ludger Schöls, Rebecca Schüle, Benjamin Bender, Rita Horvath, Ana Töpf, Inga Liepelt, Sofie Kaemereit, Sarah Wiethoff, Stephan Züchner, Benjamin Munro, Steven Laurie, Yavuz Oktay, Semra Hiz, Christoph Kernstock, Hanns Lochmüller, Serdal Güngör
المساهمون: Munro, Benjamin [0000-0003-4506-7092], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Journal of Neuromuscular Diseases
Journal of neuromuscular diseases 7(3), 301-308 (2020). doi:10.3233/JND-200510مصطلحات موضوعية: 0301 basic medicine, Research Report, Adult, Male, Adolescent, Turkey, Mitochondrial disease, Nonsense mutation, Consanguinity, Biology, Frameshift mutation, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, medicine, genetics [Leigh Disease], Humans, ddc:610, Leigh disease, Exome sequencing, pathology [Leigh Disease], Genetics, Massive parallel sequencing, physiopathology [Leigh Disease], Haplotype, genetics [Transcription Factors], medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Neurology, genetics [Mitochondrial Proteins], Female, diagnostic imaging [Leigh Disease], Neurology (clinical), Leigh Disease, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417982beac2ccbd99f6d157e1f298334Test
http://europepmc.org/articles/PMC7458500Test -
5
المؤلفون: Uluç Yiş, Denisa Hathazi, Serdal Güngör, Ezgi Karaca, Ipek Kalafatcilar, Ahmet Yaramis, Ece Sonmezler, Nóra Zs Szabó, Ana Töpf, Elmasnur Yilmaz, Daniel G. MacArthur, Andreas Roos, Burcu Ekinci, Sunitha Balaraju, Steven Laurie, Bilge Özgör, Rita Horvath, Mahmut Aslan, Isabelle Vernos, Yavuz Oktay, Semra Hiz, Hanns Lochmüller, Sergi Beltran, Álvaro Aranguren-Ibáñez
المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: iScience
iScience, Vol 24, Iss 1, Pp 101948-(2021)مصطلحات موضوعية: 0301 basic medicine, Protemics, Medizin, 02 engineering and technology, Molecular neuroscience, macromolecular substances, medicine.disease_cause, Article, Extracellular matrix, 03 medical and health sciences, Malalties del neurodesenvolupament, Microtubule, medicine, lcsh:Science, Cell adhesion, Cytoskeleton, health care economics and organizations, Mutation, Multidisciplinary, biology, Systems Biology, Clinical Neuroscience, Biological Sciences, 021001 nanoscience & nanotechnology, Cell biology, 030104 developmental biology, Tubulin, biology.protein, lcsh:Q, Axon guidance, Molecular Neuroscience, 0210 nano-technology, Proteïnes, Genètica, Neuroscience
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7396541582b104f4e888201af99ec4d8Test
-
6
المؤلفون: Ana Töpf, E. O'Heir, Rita Horvath, Steve Laurie, Uluç Yiş, Sergi Beltran, Yavuz Oktay, Didem Soydemir, Semra Hiz, Pinar Edem, Hanns Lochmüller, Ece Sonmezler, G. Sarikaya Uzan, Cem Paketçi
المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Brain Dev
مصطلحات موضوعية: Male, Intractable epilepsy, Drug Resistant Epilepsy, congenital, hereditary, and neonatal diseases and abnormalities, Microcephaly, Pediatrics, medicine.medical_specialty, Developmental delay, Developmental Disabilities, medicine.medical_treatment, Twins, Mannosyltransferases, Article, Central Nervous System Neoplasms, Craniofacial Abnormalities, Hemangioma, 03 medical and health sciences, Congenital Disorders of Glycosylation, 0302 clinical medicine, Developmental Neuroscience, Exome Sequencing, medicine, Humans, Exome sequencing, Heterogeneous group, business.industry, Infant, General Medicine, Ketogenic diet, medicine.disease, ALG3, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Diet, Ketogenic, business, 030217 neurology & neurosurgery, Lumbosacral joint, Intractable seizures
وصف الملف: application/octet-stream
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7f13055b88b72b7ef2b301d85423c6dTest
https://avesis.deu.edu.tr/publication/details/10be9137-3184-4dfe-b3c2-ece6c354022b/oaiTest -
7
المؤلفون: Elmasnur Yilmaz, Sunitha Balaraju, Serdal Güngör, Yavuz Oktay, Semra Hiz, Ana Töpf, Hanns Lochmüller, Daniel G. MacArthur, Rachel Thompson, Uluç Yiş, Rita Horvath, Steven Laurie, Andreas Roos, Ahmet Yaramis, Ece Sonmezler
المساهمون: Balaraju, Sunitha [0000-0003-0273-1918], MacArthur, Daniel G [0000-0002-5771-2290], Lochmüller, Hanns [0000-0003-2324-8001], Apollo - University of Cambridge Repository, MacArthur, Daniel G. [0000-0002-5771-2290]
المصدر: European journal of human genetics : EJHG
مصطلحات موضوعية: Adult, Male, Cerebellum, Heterozygote, Developmental Disabilities, Medizin, dysmorphism, Mutation, Missense, Biology, Brief Communication, medicine.disease_cause, Nervous System Malformations, Article, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Mutation, Trastorns del neurodesenvolupament, brief-communication, 030305 genetics & heredity, Homozygote, 1. No poverty, Infant, autosomal recessive, Heterozygote advantage, West Syndrome, Phenotype, 3. Good health, Pedigree, TLK2, neurodevelopmental disease, medicine.anatomical_structure, Female, Haploinsufficiency, Proteïnes, Protein Kinases, Spasms, Infantile, Genètica
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/png; image/jpeg; text/xml; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ae66386100761b3649aba86ab8c066Test
https://www.repository.cam.ac.uk/handle/1810/293649Test -
8
المؤلفون: Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Steven Laurie, Uluç Yiş, Ayşe İpek Polat, Elmasnur Yilmaz, Yavuz Oktay, Semra Hiz, Aysenur Yaramis, Sergi Beltran, Pinar Edem, Hanns Lochmüller, Rita Horvath, Ana Töpf
المساهمون: Yaramış, Ayşenur, Yaramış, Ahmet, Lochmueller, Hanns, Topf, Ana, Sönmezler, Ece, Yılmaz, Elmasnur, Hız, Semra, Yiş, Uluç, Güngör, Serdal, Polat, Ayşe İpek, Edem, Pınar, Beltran, Sergi, Laurie, Steven, Horvath, Rita, Oktay, Yavuz, Graduate School of Health Sciences, Apollo - University of Cambridge Repository, Horvath, Rita [0000-0002-9841-170X]
المصدر: Neurology: Genetics
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Encefalopatia, Infants -- Malalties, genetic structures, Turkish, Encephalopathy, 32 Biomedical and Clinical Sciences, Disease, Neurodegenerative, Electroencephalography, COL4A1 mutations, Collagen, Hemorrhage, Phenotype, 3105 Genetics, Article, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Clinical Research, Genetics, medicine, 2.1 Biological and endogenous factors, Missense mutation, Medicine, Malformations of cortical development, Mutation, Basement membranes, Genetics (clinical), 030304 developmental biology, Pediatric, 2 Aetiology, 2. Zero hunger, 0303 health sciences, medicine.diagnostic_test, business.industry, Neurosciences, medicine.disease, language.human_language, Brain Disorders, 3. Good health, Neurological, Cohort, Mutation (genetic algorithm), language, Neurology (clinical), Neurogenètica, business, 030217 neurology & neurosurgery, 31 Biological Sciences
وصف الملف: application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab35767fe3363ad0088bb26608d0eb74Test
http://hdl.handle.net/10230/44436Test -
9
المؤلفون: Rita Horvath, Ana Töpf, Uluç Yiş, Gülden Diniz, Yavuz Oktay, Hanns Lochmüller, Semra Hiz, Ece Sonmezler, Figen Baydan, Sezgin Güneş
المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Calcium Channels, L-Type, Myotonia Congenita, Turkey, Mutation, Missense, medicine.disease_cause, Article, 03 medical and health sciences, 0302 clinical medicine, Deformity, Humans, Medicine, Missense mutation, Muscle, Skeletal, Myopathy, Exome sequencing, Muscle contracture, Mutation, business.industry, Ryanodine receptor, Homozygote, Infant, medicine.disease, Congenital myopathy, Pedigree, Phenotype, 030104 developmental biology, Neurology, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/msword
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebc6116ef3dc3b9f062f25891eac130Test
https://avesis.deu.edu.tr/publication/details/8acabc85-0698-4115-a96b-7f34921d9e12/oaiTest