المؤلفون: Hülya Kayserili, Haluk Topaloglu, Ayaz Aghayev, Zehra Oya Uyguner, Sahin Avci, Hacer Durmus, Zuhal Yapici, Pinar Tekturk, Seher Başaran, Yesim Parman, Umut Altunoglu, Piraye Oflazer-Serdaroglu, B Sevinc Rustemoglu, Gulendam Bagirova, Feza Deymeer, Güven Toksoy, Birsen Karaman

المصدر: Neuromuscular Disorders. 29:601-613

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Turkey, Duchenne muscular dystrophy, Genetic counseling, In silico, Genetic Counseling, Chromosomal translocation, Biology, Carrier testing, medicine.disease_cause, Cohort Studies, Dystrophin, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Multiplex ligation-dependent probe amplification, Child, Genetics (clinical), Genetics, Mutation, High-Throughput Nucleotide Sequencing, Infant, Karyotype, Sequence Analysis, DNA, medicine.disease, Muscular Dystrophy, Duchenne, Phenotype, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::190147c364cb01ee776840e7569ad457Test
https://doi.org/10.1016/j.nmd.2019.03.012Test

المؤلفون: Mehmet Ali Akalin, Cemre Coşkun, Oznur Tastan, Tahsin Akgün, Ersin Tan, Aslihan Ozoguz Erimis, Mustafa Ertas, Halil Atilla Idrisoglu, Aysun Soysal, Erdi Şahin, Hamid Hamzeiy, Yesim Parman, Filiz Koç, Başar Bilgiç, Hasmet Hanagasi, Arman Çakar, Esra Gürsoy, Feza Deymeer, Ece Kartal, Fikret Aysal, Seyit Zor, Gulsen Babacan Yildiz, Nilda Turgut, Baris Isak, Gulden Olgun, Robin Palvadeau, Cemile Kocoglu, Fulya Akçimen, Tuncay Seker, Ersen Kavak, Elif Bayraktar, Utku Norman, A. Nazli Basak, A. Ercument Cicek, Ceren Tunca, Oguzhan Karakahya, Piraye Oflazer, Nesli-Ece Sen, Nurten Uzun Adatepe, Kayihan Uluc, Hacer Durmus, Cavit Boz, Dilcan Kotan

المساهمون: BABACAN YILDIZ, GÜLSEN, Tunca, Ceren, Seker, Tuncay, Akcimen, Fulya, Coskun, Cemre, Bayraktar, Elif, Palvadeau, Robin, Zor, Seyit, Kocoglu, Cemile, Kartal, Ece, Sen, Nesli Ece, Hamzeiy, Hamid, Erimis, Aslihan Ozoguz, Norman, Utku, Karakahya, Oguzhan, Olgun, Gulden, Akgun, Tahsin, Durmus, Hacer, Sahin, Erdi, Cakar, Arman, Gursoy, Esra Baar, Yildiz, Gulsen Babacan, Isak, Baris, Uluc, Kayihan, Hanagasi, Hasmet, Bilgic, Basar, Turgut, Nilda, Aysal, Fikret, Ertas, Mustafa, Boz, Cavit, Kotan, Dilcan, Idrisoglu, Halil, Soysal, Aysun, Adatepe, Nurten Uzun, Akalin, Mehmet Ali, Koc, Filiz, Tan, Ersin, Oflazer, Piraye, Deymeer, Feza, Tastan, Oznur, Cicek, A. Ercument, Kavak, Ersen, Parman, Yesim, Basak, A. Nazli, Karakahya, Oğuzhan, Olgun, Gülden, Çiçek, A. Ercüment, İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

المصدر: Human Mutation

مصطلحات موضوعية: Turkey, Genome-wide association study, Gene mutation, AMYOTROPHIC-LATERAL-SCLEROSIS, ALS variant database, Cell-Cycle Regulators, Databases, Genetic, MOTOR-NEURON DISEASE, Coexpression Network, genetics, Genetics (clinical), Exome sequencing, Genetics, next generation sequencing, RISK, 0303 health sciences, education.field_of_study, Project MinE, 030305 genetics & heredity, SPINAL MUSCULAR-ATROPHY, Amyotrophic-Lateral-Sclerosis, clinical exome sequencing, Penetrance, 3. Good health, Phenotype, Spinal Muscular-Atrophy, Turkish peninsula, motor neuron disease, COEXPRESSION NETWORK, GENE-MUTATIONS, FORM, Risk, Genotype, Population, Locus (genetics), Biology, 03 medical and health sciences, Gene-Mutations, Sequence Variation, Analyses Identify, coexpression network analysis, SEQUENCE VARIATION, Humans, Expanding genotypes, shared phenotypes, molecular networks, and a public variant database-, HUMAN MUTATION, cilt.41, 2020 [Tunca C., Seker T., Akcimen F., Coskun C., Bayraktar E., Palvadeau R., Zor S., Kocoglu C., Kartal E., Sen N. E. , et al., -Revisiting the complex architecture of ALS in Turkey], education, Form, 030304 developmental biology, Genetic association, Internet, genome-wide association study, Whole Genome Sequencing, ANALYSES IDENTIFY, Amyotrophic Lateral Sclerosis, Motor-Neuron Disease, CELL-CYCLE REGULATORS, ALS

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54aef9b9d80c46be68614b3500ccd9dbTest
http://hdl.handle.net/20.500.12645/18569Test

المؤلفون: Yesim Parman, Arman Çakar, Gulshan Yunisova, Ayse Candayan, A. Nazli Basak, Esra Battaloglu, Hacer Durmus

المصدر: Neurogenetics. 21(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Turkey, Mutation, Missense, Biology, Compound heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Iron-Binding Proteins, Genetics, medicine, Missense mutation, Humans, Family, Gene, Genetics (clinical), Homozygote, Human genetics, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Mutation (genetic algorithm), Frataxin, biology.protein, Female, medicine.symptom, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030ae525e1f6e06ec13f92250de1d7e1Test
https://pubmed.ncbi.nlm.nih.gov/31673878Test

المؤلفون: Amr H. Sawalha, Adam Adler, Yesim Gulsen-Parman, Mahdi Alahgholi-Hajibehzad, Alexander Marx, Oner Dogan, Feza Deymeer, Fikret Aysal, Piraye Oflazer, Güher Saruhan-Direskeneli, Vuslat Yilmaz, Travis K. Hughes, Mehmet Ali Akalin, Sibel P. Yentür, Hacer Durmus

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Turkey, Immunology, Population, Genome-wide association study, Human leukocyte antigen, HLA-C Antigens, Polymorphism, Single Nucleotide, Linkage Disequilibrium, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Gene Frequency, Myasthenia Gravis, Genetic predisposition, medicine, Immunology and Allergy, HLA-DQ beta-Chains, Humans, Genetic Predisposition to Disease, Receptors, Cholinergic, Allele, Age of Onset, education, Alleles, Genetics, education.field_of_study, biology, Genetic heterogeneity, Genome, Human, Receptor Protein-Tyrosine Kinases, medicine.disease, Myasthenia gravis, 030104 developmental biology, HLA-B Antigens, biology.protein, Female, Antibody, 030217 neurology & neurosurgery, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab41880803428b2e79e732068f87a876Test
https://aperta.ulakbim.gov.tr/record/56575Test

المؤلفون: Hanns Lochmüller, Matias Wagner, J. Mueller, Piraye Serdaroglu-Oflazer, Steve Laval, Hacer Durmus

المصدر: Neuromuscular Disorders. 22:S31-S32

مصطلحات موضوعية: Genetics, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Neurology (clinical), Oculopharyngodistal Myopathy, Biology, Plant biology, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::665bc08aef828b85328b6178aa6958efTest
https://doi.org/10.1016/s0960-8966Test(12)70096-2