المؤلفون: Erva Ulusoy, Zeynep Kurt, Elif Uz-yıldırım, Dilek Pirim, Niyazi Kaya

المصدر: Düzce Üniversitesi Bilim ve Teknoloji Dergisi, Vol 7, Iss 3, Pp 1931-1946 (2019)

مصطلحات موضوعية: tmco1, serebrofasiyotorasik displazi, regulomedb, snv, post-translasyonel modifikasyonlar, in silico analiz, cerebro-facio-thoracic dysplasia, post-translational modifications, in silico analyses, Technology, Engineering (General). Civil engineering (General), TA1-2040, Science, Science (General), Q1-390

وصف الملف: electronic resource

Relation: https://dergipark.org.tr/tr/download/article-file/771502; https://doaj.org/toc/2148-2446

URL الوصول: https://doaj.org/article/9c0a433cf8b2461b894d9f6e25101725

المؤلفون: Vincent Plagnol, Elif Uz, Chris Wallace, Helen Stevens, David Clayton, Tayfun Ozcelik, John A Todd

المصدر: PLoS ONE, Vol 3, Iss 8, p e2966 (2008)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2494943?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/eb2ec1a3a1f24a98a4e28eee1433ebfe

المؤلفون: Elif Uz Yıldırım, Sebnem Ozemri Sag, Niyazi Kaya, Dilek Pirim, Sehime Gulsun Temel

المصدر: International Journal of Biological Macromolecules. 162:1166-1177

مصطلحات موضوعية: endocrine system diseases, In silico, Mutation, Missense, 02 engineering and technology, Computational biology, Biology, Biochemistry, DNA sequencing, 03 medical and health sciences, Exon, Structural Biology, Neoplasms, Humans, Missense mutation, Coding region, Computer Simulation, skin and connective tissue diseases, Molecular Biology, 030304 developmental biology, BRCA2 Protein, 0303 health sciences, BRCA1 Protein, Alternative splicing, General Medicine, 021001 nanoscience & nanotechnology, Phenotype, Biomarker (cell), 0210 nano-technology, Protein Processing, Post-Translational

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211bf8b809274021514fb803f5753beb
https://doi.org/10.1016/j.ijbiomac.2020.06.222

المؤلفون: Arda Cetinkaya, Jingwei Rachel Xiong, İbrahim Vargel, Kemal Kösemehmetoğlu, Halil İbrahim Canter, Ömer Faruk Gerdan, Nicola Longo, Ahmad Alzahrani, Mireia Perez Camps, Ekim Zihni Taşkıran, Simone Laupheimer, Lorenzo D Botto, Eeswari Paramalingam, Zeliha Gormez, Elif Uz, Bayram Yuksel, Şevket Ruacan, Mahmut Şamil Sağıroğlu, Takahashi, Tokiharu, Bruno Reversade, Nurten Ayse Akarsu

المصدر: Arda Cetinkaya , Jingwei Rachel Xiong , İbrahim Vargel , Kemal Kösemehmetoğlu , Halil İbrahim Canter , Ömer Faruk Gerdan , Nicola Longo , Ahmad Alzahrani , Mireia Perez Camps , Ekim Zihni Taşkıran , Simone Laupheimer , Lorenzo D Botto , Eeswari Paramalingam , Zeliha Gormez , Elif Uz , Bayram Yuksel , Şevket Ruacan , Mahmut Şamil Sağıroğlu , , Takahashi , T , Bruno Reversade & Nurten Ayse Akarsu 2016 , ' Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling ' , American Journal of Human Genetics , vol. 99 , no. ....

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf

الاتاحة: https://research.manchester.ac.uk/en/publications/106b81cb-fc89-4e34-ab04-d36e38879b65
https://doi.org/10.1016/j.ajhg.2016.06.008
https://pure.manchester.ac.uk/ws/files/36196039/Cetinkaya_Xiong_MS_revision_4.docx
https://pure.manchester.ac.uk/ws/files/36385681/Cetinkaya_Xiong_All_Figures_revision_4.pdf
https://pure.manchester.ac.uk/ws/files/36337515/Cetinkaya_Xiong_Supplemental_Figures_and_Tables_revision_4.pdf

المؤلفون: Tuncay Ilhan, Duygu Udum, Figen Ersoy, Ebru Yalcin-Ulger, Ece Çerçi, Mustafa Sertac Yilmaz, Hatice Erdost, Elif Uz, Gokcen Guvenc-Bayram, Murat Yalcin, Awais Iqbal, Burcin Altinbas

مصطلحات موضوعية: Male, medicine.medical_specialty, Microdialysis, Hypothalamus, Neuropeptide, Rats, Sprague-Dawley, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Animals, Nucleobindins, Injections, Intraventricular, Arachidonic Acid, biology, Endocrine and Autonomic Systems, Chemistry, Lipoxygenases, Rats, Endocrinology, Prostaglandin-Endoperoxide Synthases, Prostaglandins, biology.protein, Cholinergic, Arachidonic acid, Neurology (clinical), Cyclooxygenase, Melanocortin, 030217 neurology & neurosurgery, Homeostasis, hormones, hormone substitutes, and hormone antagonists, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a73cd9140a0a93d2ef6b7b4996fbf8
https://aperta.ulakbim.gov.tr/record/4657

المؤلفون: Niyazi Kaya, Dilek Pirim, Zeynep Kurt, Elif Uz-Yildirim, Erva Ulusoy

المصدر: Volume: 7, Issue: 3 1931-1946
Düzce Üniversitesi Bilim ve Teknoloji Dergisi
Düzce Üniversitesi Bilim ve Teknoloji Dergisi, Vol 7, Iss 3, Pp 1931-1946 (2019)

مصطلحات موضوعية: tmco1, serebrofasiyotorasik displazi, lcsh:T, In silico, Mühendislik, General Medicine, Biology, cerebro-facio-thoracic dysplasia, lcsh:Technology, Molecular biology, TMCO1,Serebrofasiyotorasik displazi,RegulomeDB,SNV,Post-translasyonel modifikasyonlar,in silico analiz, Engineering, in silico analyses, lcsh:TA1-2040, snv, post-translational modifications, TMCO1,Cerebro-facio-thoracic dysplasia,RegulomeDB,SNV,post-translational modifications,in silico analyses, in silico analiz, lcsh:Q, post-translasyonel modifikasyonlar, lcsh:Engineering (General). Civil engineering (General), lcsh:Science, lcsh:Science (General), regulomedb, lcsh:Q1-390

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a7c675207e20f66dd129542d2b4e030
https://dergipark.org.tr/tr/pub/dubited/issue/46290/571528

المؤلفون: Cagman Sun-Tan, Baran Erman, Köksal R. Özgül, Sevil Oskay Halacli, Ilhan Tezcan, Elif Uz, Ozden Sanal, Deniz Cagdas Ayvaz, Didem Yücel Yılmaz

المساهمون: Uludağ Üniversitesi/Fen-Edebiyat Fakültesi/Moleküler Biyoloji ve Genetik Bölümü., Uz, Elif

المصدر: Clinical Immunology. 161:316-323

مصطلحات موضوعية: Male, Cytoplasm, Stk 4 gene, Autoimmune cytopenia, DNA Mutational Analysis, Seborrheic dermatitis, Dermatitis, Gene, Dock8 dificiency, T lymphocyte, Corticosteroid, Pallor, Child, Hypoxia, Immunodeficiency, Tachypnea, Molluscum contagiosum, Intracellular Signaling Peptides and Proteins, Memory cell, CD8 antigen, Pedigree, STK4 deficiency, Child, Preschool, Medical history, Deficiency, CD4 antigen, Rituximab, Hepatomegaly, Human, Protein-serine-threonine kinases, CD45RA antigen, Immunology, Jaundice, Urinalysis, Methylprednisolone, Article, Nail infection, Combined immunodeficiencies, Case report, Onychomycosis, Genetics, Humans, Clinical evaluation, T cell deficiency, Autoimmune hemolytic anemia, Steroid, Protein serine threonine kinase, CD4+ T lymphocyte, CD19 antigen, Skin defect, Infant, Follow up, Pneumonia, Body weight, medicine.disease, Body height, Cytopenia, Mutation, Hemolytic anemia, Bacterial infection, Nucleotide sequence, Neutrophil count, Immune deficiency, medicine.disease_cause, Protein, Long-Acting Thyroid Stimulator, Verteporfin, Antimicrobial therapy, Autoimmunity, Anthropometric parameters, Autoimmune disease, Immunology and Allergy, Disease, Bronchus hyperreactivity, Priority journal, STK4 protein, human, Atopy, Steroid therapy, Anemia, Newborn period, Female, CD27 antigen, Job Syndrome, Laboratory test, Neutropenia, Sibling, Virus infection, Hyperimmune globulin, Protein Serine-Threonine Kinases, Biology, Autoimmune Diseases, Antinuclear antibody, Physical examination, Lymphopenia, Immunoglobulin, Reticulocytosis, medicine, Coombs positive hemolytic anemia, Double stranded DNA, Gene mutation, Atopic dermatitis, Family Health, B lymphocyte, Siblings, Lymphocytopenia, Immunoglobulin D, Respiratory distress, Immunoglobulin E, Thrombocytopenia, Cyclosporin A, Clinical feature, Preschool child, Erythrocyte transfusion, Hyper IgE syndrome, Hyperimmunoglobulin E syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee94198c32ae9f98a8655b1c8364421a
https://doi.org/10.1016/j.clim.2015.06.010

المؤلفون: Nurten A. Akarsu, Bayram Yuksel, Pelin Özlem Şimşek Kiper, Koray Boduroğlu, Ekim Z. Taskiran, Ferda Percin, Orçun Haçarız, Eda Utine, Mahmut Şamil Sağıroğlu, Elif Uz, Yasemin Alanay, Bekir Ergüner

المصدر: American Journal of Medical Genetics Part A. 164:291-304

مصطلحات موضوعية: Male, Turkey, DNA Mutational Analysis, Gene Expression, Genes, Recessive, Biology, Corpus callosum, Bone and Bones, Consanguinity, Fatal Outcome, Pregnancy, Intellectual Disability, Gene Order, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Hypertelorism, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Homozygote, Pregnancy Outcome, Brain, Chromosome Mapping, Facies, Infant, Membrane Proteins, Anatomy, medicine.disease, Disease gene identification, Magnetic Resonance Imaging, Hypoplasia, Pedigree, Radiography, Phenotype, Dysplasia, Child, Preschool, Female, Calcium Channels, medicine.symptom, Brachycephaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bc96ad3d99dad7c830d5efeb2a8473f
https://doi.org/10.1002/ajmg.a.36248

المؤلفون: Elif Uzunagach

المصدر: Крымское историческое обозрение, Vol 9, Iss 1, Pp 40-57 (2022)

مصطلحات موضوعية: crimean khanate, ottoman empire, crimea, giray, state organization, History of Eastern Europe, DJK1-77

وصف الملف: electronic resource

Relation: https://crimeanreview.ru/wp-content/uploads/2022/07/Elif-Uzunagach2_KIO_1_2022-2.pdf; https://doaj.org/toc/2313-612X; https://doaj.org/toc/2712-813X

URL الوصول: https://doaj.org/article/e5dcc511dd934a23867c55e3cb1cedf9

المؤلفون: Safak Gucer, Nurten A. Akarsu, Ferdinand von Eggeling, Ozgur Deren, Dilek Aktas, Yasemin Alanay, Sevim Balci, Elif Uz, Mehmet Alikasifoglu, Ibrahim Vargel, Nicole Posorski, Hilal Özdağ, Gökhan Tunçbilek, Engin Yilmaz, Thomas Liehr, Bernd Wollnik

المساهمون: Çocuk Sağlığı ve Hastalıkları, Kırıkkale Üniversitesi

المصدر: The American Journal of Human Genetics. 86(5):789-796

مصطلحات موضوعية: Biology, Microphthalmia, 03 medical and health sciences, 0302 clinical medicine, Report, medicine, Genetics, Humans, Microphthalmos, Genetics(clinical), Hypertelorism, Frontonasal dysplasia, Genetics (clinical), Sequence Deletion, 030304 developmental biology, Homeodomain Proteins, Genetics & Heredity, 0303 health sciences, Facial cleft, Homozygote, Ear, medicine.disease, Disease gene identification, Hypoplasia, Musculoskeletal Abnormalities, 3. Good health, Cleft Palate, Phenotype, Dysplasia, Face, Mutation, RNA Splice Sites, medicine.symptom, 030217 neurology & neurosurgery, SNP array

وصف الملف: text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14f655488066359746308245ddd7ad82

المؤلفون: Elif Uz, Safak Caglayan, Nurten A. Akarsu, Onur Emre Onat, Tayfun Ozcelik, Suleyman Gulsuner, Üner Tan, Meliha Tan

المساهمون: Çukurova Üniversitesi

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: family, cell migration, chromosome 9p24, sequence analysis, nonsense mutation, gait disorder, Very Low-Density Lipoprotein Receptor, Turkey (republic), membrane protein, chromosome 9p, gene mutation, VLDLR Gene, Genetics, quadruped gait, Multidisciplinary, adult, article, protein domain, Biological Sciences, nucleotide, Phenotype, aged, Unertan syndrome, female, priority journal, cerebellum hypoplasia, genetic trait, neuroblast, very low density lipoprotein receptor, cerebellum, phenotype, Nonsense mutation, Biology, gait, brain cortex, brain function, male, Neuroblast migration, reelin, genomics, medicine, human, gene, Genetic heterogeneity, nucleotide sequence, gene mapping, prediction, medicine.disease, relative, Uner Tan syndrome, genetic disorder, Cerebellar hypoplasia (non-human), homozygosity

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15ec20f4c9f8cff6ad1cc96ed3c0f9ec
https://doi.org/10.1073/pnas.0710010105

المؤلفون: Mujgan Inozu, Ufuk Çelikcan, Ezgi Trak, Elif Üzümcü, Hüseyin Nergiz

المصدر: Cyberpsychology: Journal of Psychosocial Research on Cyberpspace, Vol 15, Iss 1 (2023)

مصطلحات موضوعية: obsessive-compulsive disorder, virtual reality, contamination fear, disgust, Psychology, BF1-990

وصف الملف: electronic resource

Relation: https://cyberpsychology.eu/article/view/13472; https://doaj.org/toc/1802-7962

URL الوصول: https://doaj.org/article/636f4be7735d4f2ea788f2156ef876dc

المؤلفون: Michael F. Buckley, Gerhard Müller-Newen, Katharina Keupp, Joachim Grötzinger, Nurten A. Akarsu, Christian Gilissen, Bernd Wollnik, Nursel Elcioglu, H. Collmann, Ersoy Konaş, Martin Rachwalski, Soner Kamaci, Kornelia Neveling, Elif Uz, Gökhan Tunçbilek, Yun Li, Burcu Akin, Rebecca J. Richardson, Joris A. Veltman, Wolfram Kress, Gökhan Yigit, Ibrahim Vargel, Emin Mavili, Alexander Hoischen, Matthias Hammerschmidt, Tony Roscioli, Yasemin Alanay

المساهمون: Kırıkkale Üniversitesi, Acibadem University Dspace

المصدر: Molecular genetics & genomic medicine : MGGM 1(4), 223-237 (2013). doi:10.1002/mgg3.28
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Nonsense mutation, Biology, Compound heterozygosity, medicine.disease_cause, Craniosynostosis, 03 medical and health sciences, 0302 clinical medicine, IL11RA, Autosomal recessive craniosynostosis, Genetics, medicine, Missense mutation, Molecular Biology, Genetics (clinical), 030304 developmental biology, Tooth erruption, 0303 health sciences, Mutation, Crouzon syndrome, Original Articles, medicine.disease, Disease gene identification, 3. Good health, Crouzon, FGFR2, Supernumerary teeth, medicine.anatomical_structure, Coronal suture, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba5179b4d59a988a15456f2f740d5dc0
https://hdl.handle.net/20.500.12684/453

المؤلفون: Elif Uzun Kart

المصدر: Ceramics-Silikáty, Vol 65, Iss 4, Pp 344-353 (2021)

مصطلحات موضوعية: calcium sulphate anhydrite, self-doped with sio₂, bioceramic, red mud, Clay industries. Ceramics. Glass, TP785-869

وصف الملف: electronic resource

Relation: http://www.ceramics-silikaty.cz/index.php?page=cs_detail_doi&id=1426; https://doaj.org/toc/0862-5468; https://doaj.org/toc/1804-5847

URL الوصول: https://doaj.org/article/e2e9540f2a8d471eae3011006434243b

المؤلفون: Elif Uz, Barry Merriman, Osama H. Ababneh, Hane Lee, Mohammad Shboul, Anna C Strobl, Bruno Reversade, Carine Bonnard, Stanley F. Nelson, Hanan Hamamy, Hülya Kayserili, Tulay Guran

المساهمون: Other departments

المصدر: Nature genetics, 44(6), 709-U140. Nature Publishing Group

مصطلحات موضوعية: Heart Defects, Congenital, Male, Cell signaling, Molecular Sequence Data, Xenopus, GATA3 Transcription Factor, Xenopus Proteins, Bone and Bones, Craniofacial Abnormalities, Xenopus laevis, Genetics, Transcriptional regulation, Animals, Humans, Abnormalities, Multiple, Craniofacial, Gonads, Transcription factor, Homeodomain Proteins, biology, Base Sequence, GATA3, Brain, Syndrome, biology.organism_classification, Pedigree, DNA-Binding Proteins, Repressor Proteins, Germ cell migration, Branchial Region, Gene Expression Regulation, Homeobox, Female, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed638f987c969279a44f0922bd383c5
https://aperta.ulakbim.gov.tr/record/88301

المؤلفون: A. Elif Anıl Yağcıoğlu, Mustafa Tugrul Goktas, Melih O. Babaoglu, Bilge Çetin İlhan, M Kazım Yazıcı, Elif Uz

المصدر: Journal of clinical psychopharmacology. 31(2)

مصطلحات موضوعية: Genetics, Adult, Male, ATP Binding Cassette Transporter, Subfamily B, Schizophrenia, Paranoid, business.industry, Genetic Variation, Twins, Monozygotic, Multidrug Resistance Gene, Psychiatry and Mental health, medicine, Humans, Pharmacology (medical), ATP Binding Cassette Transporter, Subfamily B, Member 1, Allele, business, Clozapine, Alleles, medicine.drug, Agranulocytosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5161015568605edee0b145f0a001366d
https://pubmed.ncbi.nlm.nih.gov/21364339

المؤلفون: Marie Hélène Saint Frison, Sophie Patrier, Elif Uz, Gülen Eda Utine, Valérie Cormier-Daire, Nicolas Goudin, Nadia Elkhartoufi, Gönöl Ogur, Nurten A. Akarsu, Stanislas Lyonnet, Daniela Buzas, Koray Boduroğlu, Mark Winey, Tania Attié-Bitach, L. Fertitta, Karlien L.M. Coene, Sophie Thomas, Christine Bole-Feysot, Christopher L. Bennett, Raoul C.M. Hennekam, Arnold Munnich, Philip L. Beales, Nicholas Katsanis, Marie Gonzales, Luc Rigonnot, Patrick Nitschke, Estelle Colin, Christel Thauvin-Robinet, Yasemin Alanay, Alain Schmitt, Michel Vekemans, Solenn Pruvost, Férechté Encha-Razavi, Jean Pierre Siffroi, Nicolas Cagnard, Erica E. Davis, Céline Gomes, N. Joye, Audrey Putoux

المساهمون: Çocuk Sağlığı ve Hastalıkları, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics, OMÜ

المصدر: Nature genetics, 43(6), 601-606. Nature Publishing Group

مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, animal structures, Adolescent, Acrocallosal Syndrome, Hydrolethalus syndrome, Kinesins, Biology, medicine.disease_cause, Ciliopathies, Article, Cerebral Ventricles, Consanguinity, Internal medicine, GLI3, Genetics, medicine, Humans, Hedgehog Proteins, Cilia, Child, Genetics & Heredity, Mutation, Cilium, Infant, Acrocallosal syndrome, medicine.disease, Magnetic Resonance Imaging, Hedgehog signaling pathway, Pedigree, Ciliopathy, Endocrinology, Child, Preschool, Female, Hand Deformities, Congenital, Hydrocephalus

وصف الملف: text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::402df5b87e6a3306c82e6110a2f9ec89
http://hdl.handle.net/11655/14121

المؤلفون: Seza Ozen, Rezan Topaloglu, Tayfun Ozcelik, Elif Uz, Ali Dursun, Chigdem A. Mustafa, Ozgur Kasapcopur, Aysin Bakkaloglu, Yelda Bilginer

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: Arthritis and Rheumatism

مصطلحات موضوعية: Blood sampling, genetic structures, Arthritis, Risk Factors, X Chromosome Inactivation, Immunology and Allergy, Pharmacology (medical), Child, skin and connective tissue diseases, X chromosome, Priority journal, Arthritis, Juvenile Rheumatoid, Juvenile rheumatoid arthritis, Androgen receptor, Immunosuppressive agent, Receptors, Androgen, Child, Preschool, Female, Human, musculoskeletal diseases, medicine.medical_specialty, Heterozygote, Adolescent, Genotype, Immunology, Major clinical study, Article, Autoimmune thyroiditis, Rheumatology, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Skewed X-inactivation, Chromosomes, Human, X, business.industry, Case-control study, DNA, medicine.disease, Gene frequency, Arthritis, Juvenile, Nonsteroid antiinflammatory agent, Methotrexate, DNA polymorphism, Case-Control Studies, Mutation, business, Controlled study

وصف الملف: application/pdf; text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b794c91f70991c88b03341b69410ec9
https://aperta.ulakbim.gov.tr/record/38591

المؤلفون: Chigdem A. Mustafa, Mouna Mnif, Abdellatif Maalej, Tayfun Ozcelik, Zouheir Bahloul, Elif Uz, Hammadi Ayadi, Nadir R. Farid, Ghazi Chabchoub, Ahmed Rebai

المصدر: Arthritis Research and Therapy
Arthritis Research & Therapy
Chabchoub, G, Uz, E, Maalej, A, Mustafa, C A, Rebai, A, Mnif, M, Bahloul, Z, Farid, N R, Ozcelik, T & Ayadi, H 2009, ' Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases ', Arthritis Research and Therapy, vol. 11, no. 4 . https://doi.org/10.1186/ar2759

مصطلحات موضوعية: Autoimmune thyroiditis, Enzyme linked immunosorbent assay, Fluorescent Antibody Technique, Polymerase Chain Reaction, X chromosome, Arthritis, Rheumatoid, Autoantibody, X Chromosome Inactivation, Autoimmune disease, Immunology and Allergy, Middle aged, Allele, Penicillamine, Middle Aged, Rheumatoid factor, Androgen receptor, Phenotype, Blood, Female, Research Article, Hydroxychloroquine, Human, Adult, medicine.medical_specialty, Tunisia, Immunology, Enzyme-Linked Immunosorbent Assay, Major clinical study, Chromosome analysis, X-inactivation, Autoimmune Diseases, Rheumatology, Internal medicine, medicine, Genetic predisposition, Genetics, Humans, Genetic Predisposition to Disease, Rheumatoid arthritis, Skewed X-inactivation, Autoantibodies, Cyclic citrullinated peptide antibody, Chromosomes, Human, X, business.industry, medicine.disease, Thyroid disease, Thyroid Diseases, Immunosuppressive treatment, Endocrinology, Methotrexate, Genetic association, business, X chromosome inactivation, Controlled study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a72954e4d7c42b368f3b8510ba5eb2b
https://hdl.handle.net/11693/22696

المؤلفون: Ibrahim Vargel, Sevim Balci, Carien M. Niessen, Sukru Candan, Nurten A. Akarsu, Gökhan Tunçbilek, Hülya Kayserili, Bernd Wollnik, Oya Uyguner, Serkan Kaygin, Mehmet Alikasifoglu, Emin Mavili, Elif Uz, Yasemin Alanay, Hamza Okur, Ingo Haase, Gökhan Yigit

المساهمون: Kırıkkale Üniversitesi

مصطلحات موضوعية: Male, Nonsense mutation, Biology, Facial Bones, Mutant protein, Genetics, medicine, Humans, Hypertelorism, Craniofacial, Frontonasal dysplasia, Child, Molecular Biology, Genetics (clinical), integumentary system, Craniofacial Dysostosis, Chromosome Mapping, Infant, Dysostosis, General Medicine, Hair follicle, medicine.disease, Cell biology, DNA-Binding Proteins, medicine.anatomical_structure, Child, Preschool, Mutation, Homeobox, Epidermis, medicine.symptom, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6393fc6c406b496d42c38aaf5701902
https://hdl.handle.net/20.500.12587/4340