نتائج البحث - "Hacer Durmus"

1

An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis

المؤلفون: Yesim Parman, Duygu Gezen-Ak, Arman Çakar, Hacer Durmus, Hasan Demirci, Erdinç Dursun, Merve Alaylıoğlu

المصدر: Acta Neurologica Scandinavica. 144:640-646

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9724c649b8ea1731d1d03342f2322dTest
https://doi.org/10.1111/ane.13507Test

2

Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling

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

3

Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

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