المؤلفون: Atil Bisgin, Sebnem Ozemri Sag, Muhammet E. Dogan, Mahmut S. Yildirim, Aydeniz Aydin Gumus, Nejmiye Akkus, Ozgur Balasar, Ceren D. Durmaz, Recep Eroz, Sule Altiner, Adem Alemdar, Lamia Aliyeva, Ibrahim Boga, Fethi S. Cam, Berkcan Dogan, Onur Esbah, Abdullah Hanta, Cem Mujde, Cemre Ornek, Sinem Ozer, Cagla Rencuzogullari, Ozge Sonmezler, Sevcan Tug Bozdogan, Munis Dundar, Sehime G. Temel

المصدر: Breast, Vol 65, Iss , Pp 15-22 (2022)

مصطلحات موضوعية: BRCA profiling, BRCA landscape, Population study, Genomic screening, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0960977622001138; https://doaj.org/toc/1532-3080

URL الوصول: https://doaj.org/article/e63eea3f85294bbebe3b5c247e16a423

المؤلفون: Emel Okulu, Ceren D. Durmaz, Gaffari Tunc, Adil Guzel, Nuket Y. Kutlay, Omer Erdeve, Begum Atasay, John A. McGrath, Lu Liu, Saadet Arsan

المصدر: Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Epidermolysis bullosa, Carmi syndrome, Integrin alpha 6, Integrin beta 4, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s43042-020-00055-7; https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/d4af0db2796a49aeafe4c87286cb66a0

المؤلفون: Halil Gürhan Karabulut, Zehra Akkaya, Murat Torgutalp, Denise Horn, Wenke Seifert, Ceren D. Durmaz, Murat Turgay

المصدر: Cytogenetic and Genome Research. 158:126-132

مصطلحات موضوعية: 0303 health sciences, Pathology, medicine.medical_specialty, Mutation, Digital Clubbing, Periosteal reaction, Arthritis, Biology, medicine.disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Spinal osteoarthropathy, 030220 oncology & carcinogenesis, Genetics, medicine, biology.protein, Primary Hypertrophic Osteoarthropathy, Molecular Biology, Palmoplantar hyperhidrosis, Genetics (clinical), 030304 developmental biology, SLCO2A1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9843f1cf67e649888a9b3bf807fb3362
https://doi.org/10.1159/000500988

المؤلفون: Ceren D. Durmaz, Elifcan Taşdelen, Halil Gürhan Karabulut

المصدر: Cytogenetic and Genome Research. 154:181-186

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Foot Deformities, Congenital, Nasal bridge, Genes, Recessive, Biology, Oculodentodigital dysplasia, medicine.disease_cause, Microphthalmia, Craniofacial Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Eye Abnormalities, Syndactyly, Molecular Biology, Genetics (clinical), Mutation, Tooth Abnormalities, Homozygote, Chromosome, medicine.disease, Dermatology, Microcornea, Hypodontia, 030104 developmental biology, Connexin 43, Codon, Terminator, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e38a76e13ba3e7602a615b9142531655
https://doi.org/10.1159/000489000

المؤلفون: Gareth Evans, Timur Tuncalı, Miriam J. Smith, Pelin Ertop, Ceren D. Durmaz, Bengü Nisa Akay

المصدر: Cytogenetic and Genome Research. 154:57-61

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Macrocephaly, Nevoid basal-cell carcinoma syndrome, Biology, medicine.disease, Frameshift mutation, Falx cerebri, PTCH2, stomatognathic diseases, 03 medical and health sciences, Frontal Bossing, 030104 developmental biology, 0302 clinical medicine, PTCH1, 030220 oncology & carcinogenesis, Genetics, medicine, medicine.symptom, Keratocyst, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5771581a945689e7f87cc5e7bc76fa55
https://doi.org/10.1159/000487747

المؤلفون: Elifcan Taşdelen, Şule Altıner, Ceren D. Durmaz, Hatice Ilgın Ruhi, Halil Gürhan Karabulut

المصدر: Fetal and pediatric pathology. 40(5)

مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, Upturned nose, Chromosomal disorder, Chromosome Disorders, 030105 genetics & heredity, Vesicoureteral reflux, Pathology and Forensic Medicine, Growth hormone deficiency, 03 medical and health sciences, 0302 clinical medicine, Clinical report, medicine, Humans, 030219 obstetrics & reproductive medicine, business.industry, Human Growth Hormone, General Medicine, Syndrome, Microdeletion syndrome, medicine.disease, Phenotype, Pediatrics, Perinatology and Child Health, Chromosome Deletion, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::156f8dc53bbfbf30196cb278944d1449
https://pubmed.ncbi.nlm.nih.gov/31997693

المؤلفون: Aylin Okçu Heper, Seçil Vural, Ruhi H. Ilgın, John A. McGrath, Pelin Ertop, Ezgi Gökpınar İli, Ayşe Boyvat, Ceren D. Durmaz

المصدر: International journal of dermatologyReferences. 59(7)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heterozygote, Collagen Type VII, DNA Mutational Analysis, Physical examination, Dermatology, Polymorphism, Single Nucleotide, Atopy, 030207 dermatology & venereal diseases, 03 medical and health sciences, Therapeutic approach, Young Adult, 0302 clinical medicine, Intravenous Immunoglobulin Therapy, Medicine, Humans, Medical history, Child, Index case, Aged, biology, medicine.diagnostic_test, business.industry, Immunoglobulins, Intravenous, medicine.disease, Epidermolysis Bullosa Dystrophica, Pedigree, Phenotype, Milia, 030220 oncology & carcinogenesis, Mutation, Retreatment, biology.protein, Female, Antibody, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::950b5d0222cdb31f49d8b3cfa5733598
https://pubmed.ncbi.nlm.nih.gov/32506551

المؤلفون: L. Steinmüller‐Magin, Hatice Ilgın Ruhi, Atay Vural, L.M. Holdt, A. Kleinhempel, Kathrin A. Giehl, Mustafa Gündoğdu, Ceren D. Durmaz, T. Ruzicka, Ayşe Boyvat, E. Gökpınar İli, Seçil Vural

المصدر: British Journal of Dermatology. 180

مصطلحات موضوعية: Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fd20a6994d3ff895a1d56634c75312b7
https://doi.org/10.1111/bjd.17973

المؤلفون: Nihal Kundakci, Halil Gürhan Karabulut, Ceren D. Durmaz, Hatice Ilgın Ruhi, Seçil Vural, Hatice Sanli, Pelin Ertop, Aylin Okçu Heper

المصدر: Cytogenetic and Genome Research. 151:186-190

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Genodermatosis, Disease, Biology, medicine.disease, Phenotype, H SYNDROME, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Superior vena cava, 030220 oncology & carcinogenesis, Internal medicine, Genetics, medicine, Molecular Biology, Gene, Novel mutation, Genetics (clinical), Histiocyte

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4741cc0c57392559fa5b56bcf172cc60
https://doi.org/10.1159/000475908

المؤلفون: Emanuele G. Coci, Patricia C. M. O’Brien, Halil Gürhan Karabulut, Aylin Okçu Heper, Andrea Auhuber, Cecilia Surace, Valeria Orlando, Viola Alesi, Eva B. Athanasopoulou, Elena Rossi, Silvia Genovese, Claus Steinlein, Juan A. Marchal, Edivaldo Herculano Corrêa de Oliveira, Hatice Ilgın Ruhi, Fabrizia Restaldi, Lisa De Lorenzi, Antonio Novelli, Joachim Riedel, Hatice Sanli, Stefania Bonacina, Analía Del Valle Garnero, Tiago Marafiga Degrandi, Nihal Kundakci, Sara Loddo, Pelin Ertop, Satz Mengensatzproduktion, Maria Cristina Digilio, Antonio Sánchez, Alessandra Iannuzzi, I. Romero-Fernández, Malcolm A. Ferguson-Smith, Bruno Dallapiccola, Pietro Parma, Ceren D. Durmaz, Andreas Leenen, María Arroyo, Thomas Liehr, Thomas Lücke, Seçil Vural, Elisa Pisaneschi, Rafael Kretschmer, Maria Lisa Dentici, Druckerei Stückle, Michail Rovatsos, Kristin Mrasek, Michael Schmid, Daniele Pompili, Anna Langenbach, Ricardo José Gunski

المصدر: Cytogenetic and Genome Research. 151:I-IV

مصطلحات موضوعية: Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2210feb14029e9d07d703ff749ea3936
https://doi.org/10.1159/000478840

المؤلفون: Lu Liu, Halil Gürhan Karabulut, Ceren D. Durmaz, John A. McGrath

المصدر: Cytogenetic and Genome Research. 154:119-121

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Ectrodactyly, Genodermatosis, Biology, medicine.disease, Short stature, Focal dermal hypoplasia, Frameshift mutation, PORCN, Eye abnormality, 03 medical and health sciences, 030104 developmental biology, Genetics, medicine, PORCN gene, medicine.symptom, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::80f47735f9107a4c6f42b51cd97bf872
https://doi.org/10.1159/000487580

المؤلفون: Atay Vural, Hatice Ilgın Ruhi, Ceren D. Durmaz, T. Ruzicka, A. Kleinhempel, Kathrin A. Giehl, Seçil Vural, Mustafa Gündoğdu, E. Gökpınar İli, L. Steinmüller‐Magin, L.M. Holdt, Ayşe Boyvat

المصدر: The British journal of dermatology. 180(6)

مصطلحات موضوعية: Adult, Male, Turkish population, medicine.medical_specialty, DNA Mutational Analysis, Familial Mediterranean fever, Dermatology, Gastroenterology, Pyrin domain, Pathogenesis, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Medicine, Humans, Hidradenitis suppurativa, Genetic Predisposition to Disease, Alleles, Adaptor Proteins, Signal Transducing, Skin, business.industry, Case-control study, Odds ratio, Pyrin, medicine.disease, MEFV, Familial Mediterranean Fever, Hidradenitis Suppurativa, Cytoskeletal Proteins, Case-Control Studies, Mutation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cd9dcaf11211e021d15cb9e54968f1a
https://pubmed.ncbi.nlm.nih.gov/31157433

المؤلفون: Nuket Yurur Kutlay, Özlem Türedi, Kanay Yararbas, İsmigül Akın, Günay Karataş, Ceren D. Durmaz, Ajlan Tükün, Cansu Gürbüz

المصدر: Cytogenetic and Genome Research. 148:19-24

مصطلحات موضوعية: Male, 0301 basic medicine, Monosomy 9p, Pathology, medicine.medical_specialty, Developmental Disabilities, Karyotype, Chromosome Breakpoints, Chromosomal rearrangement, Biology, 03 medical and health sciences, INDEL Mutation, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Molecular Biology, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome 13, Chromosomes, Human, Pair 13, Breakpoint, Syndrome, Telomere, medicine.disease, Subtelomere, 030104 developmental biology, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 9

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fd2f3a68157a06fe6c881b07302d417
https://doi.org/10.1159/000444872

المؤلفون: Ceren D, Durmaz, Gareth, Evans, Miriam J, Smith, Pelin, Ertop, Bengü N, Akay, Timur, Tuncalı

المصدر: Cytogenetic and genome research. 154(2)

مصطلحات موضوعية: Male, Patched-1 Receptor, Humans, Infant, Basal Cell Nevus Syndrome, Exons, Sequence Analysis, DNA, Cerebellar Neoplasms, Frameshift Mutation, Congenital Abnormalities, Medulloblastoma, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a81cb2e62f97e80f34f46693203f6260
https://pubmed.ncbi.nlm.nih.gov/29544218

المؤلفون: Ceren D, Durmaz, John, McGrath, Lu, Liu, Halil G, Karabulut

المصدر: Cytogenetic and genome research. 154(3)

مصطلحات موضوعية: Adult, Focal Dermal Hypoplasia, Humans, Membrane Proteins, Female, Frameshift Mutation, Acyltransferases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dce6e2a5620df96b78a60915a1e8e2c8
https://pubmed.ncbi.nlm.nih.gov/29525789

المؤلفون: Seçil, Vural, Pelin, Ertop, Ceren D, Durmaz, Hatice, Şanlı, Aylin, Okçu Heper, Nihal, Kundakçı, Halil G, Karabulut, Hatice, Ilgın Ruhi

المصدر: Cytogenetic and genome research. 151(4)

مصطلحات موضوعية: Phenotype, Adolescent, Homozygote, Mutation, Humans, Female, Nucleoside Transport Proteins, Syndrome, Skin Diseases, Skin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0935511516cb6f083f498728f5873f45
https://pubmed.ncbi.nlm.nih.gov/28554179

المؤلفون: Vedat Taş, Ceren D. Durmaz, Pınar Kocaay, Suha Beton, Hüseyin Onay, Hatice Ilgın Ruhi, Ferda Ozkinay, Ömer Suat Fitoz

المصدر: Congenital Anomalies. 57:91-92

مصطلحات موضوعية: 0301 basic medicine, Embryology, medicine.medical_specialty, business.industry, General Medicine, medicine.disease, Surgery, Bilateral choanal atresia, 03 medical and health sciences, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Pycnodysostosis, medicine, business, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::597e3baea45549fdd1c025bc52688b90
https://doi.org/10.1111/cga.12204