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المؤلفون: Hülya Kayserili, Dilek Uludağ Alkaya, Sukru Palanduz, Ercan Mihci, Nilay Güneş, Banu Güzel Nur, Elifcan Taşdelen, Güven Toksoy, Sukru Ozturk, Tugba Kalayci, Zehra Oya Uyguner, Zuhal Bayramoglu, Beyhan Tüysüz, Umut Altunoglu, Leyla Elkanova, Ezgi Gizem Berkay, Volkan Karaman, Kivanc Cefle
المصدر: American Journal of Medical Genetics Part A. 185:2488-2495
مصطلحات موضوعية: medicine.medical_specialty, Cleidocranial Dysplasia, business.industry, Scoliosis, medicine.disease, Gastroenterology, Short stature, Frontal Bossing, medicine.anatomical_structure, Skeletal disorder, Clavicle, Internal medicine, Genetics, medicine, Wormian bones, Allelic heterogeneity, medicine.symptom, business, Genetics (clinical)
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المؤلفون: Reha Artan, Arzu Aras, Banu Güzel Nur, Esra Manguoğlu, Ayşen Bingöl
المصدر: Turkiye Klinikleri Journal of Case Reports. 29:164-169
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, medicine, Congenital Cystic Adenomatoid Malformation, business, medicine.disease, Cystic fibrosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b1f943b26b5bb4bee77f07ed510405a4
https://doi.org/10.5336/caserep.2020-80715 -
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المؤلفون: Banu Güzel Nur, Ercan Mihci, Tuğba Karaman Mercan, Abdullah Utku Senol, Ozgur Erkal, Birsen Karaman, Sibel Berker Karauzum, Ozden Altiok Clark
المصدر: Cytogenetic and Genome Research. 161:153-159
مصطلحات موضوعية: Genetics, media_common.quotation_subject, Nonsense, Chromosome, Karyotype, Biology, medicine.disease, Subtelomere, Chromosome 4, Intellectual disability, medicine, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, media_common
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2579fce9b6ec1c08dd8919ccf0f07205
https://doi.org/10.1159/000515368 -
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المؤلفون: Banu Güzel Nur, Gülen Eda Utine, Umut Arslan, Ekim Z. Taskiran, Pelin Ozlem Simsek-Kiper, Koray Boduroğlu, Gizem Ürel-Demir, Mithat Haliloglu, Yasemin Alanay, Ercan Mihci
المصدر: Journal of Human Genetics. 66:585-596
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Turkey, Limb Deformities, Congenital, Dwarfism, 030105 genetics & heredity, Osteochondrodysplasias, Compound heterozygosity, Short stature, Consanguinity, 03 medical and health sciences, symbols.namesake, Exome Sequencing, Genetics, Humans, Medicine, Missense mutation, Genetic Predisposition to Disease, Cyst, Global developmental delay, Child, Genetics (clinical), Exome sequencing, Sanger sequencing, Tertiary Healthcare, business.industry, Homozygote, Infant, medicine.disease, NPR2, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, symbols, Female, medicine.symptom, business, Receptors, Atrial Natriuretic Factor
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المؤلفون: Sukran Tacoy, Banu Güzel Nur, Özgül M. Alper, Elanur Yilmaz, Ercan Mihci
المصدر: Pediatric Neurology. 99:7-15
مصطلحات موضوعية: Brain development, Mice, Transgenic, Brain damage, Bioinformatics, Paternal Age, Epigenesis, Genetic, Craniosynostosis, Craniosynostoses, Mice, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, Diseases in Twins, Prevalence, medicine, Animals, Humans, Epigenetics, Craniofacial, Genetic Association Studies, Fibrous joint, business.industry, Skull, High-Throughput Nucleotide Sequencing, Breathing problems, Cranial Sutures, Syndrome, medicine.disease, Disease Models, Animal, MicroRNAs, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, RNA, Small Untranslated, Neurology (clinical), medicine.symptom, Congenital disease, business, 030217 neurology & neurosurgery, Signal Transduction
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المصدر: Indian Journal of Dermatology, Venereology and Leprology, Vol 84, Iss 4, Pp 474-477 (2018)
مصطلحات موضوعية: business.industry, Dermatology, Astrophysics, lcsh:RL1-803, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Infectious Diseases, 030220 oncology & carcinogenesis, Café au lait spot, lcsh:Dermatology, Medicine, Halo, medicine.symptom, business, Mongolian spots
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المؤلفون: Banu Güzel Nur, Sibel Berker Karauzum, Ozden Altiok Clark, S Yakut, Zafer Cetin, Ercan Mihci
المصدر: Gene Reports. 7:50-58
مصطلحات موضوعية: 0301 basic medicine, Genetics, Chromosome engineering, Breakpoint, Chromosome, Chromosomal translocation, Karyotype, 030105 genetics & heredity, Biology, Molecular biology, Phenotype, Peripheral blood, 03 medical and health sciences, chemistry.chemical_compound, chemistry, DNA
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المؤلفون: Laurence Perrin, Céline Huber, Odile Boute, Christine Bole-Feysot, Pierre Bitoun, Yasemin Alanay, Patrick Nitschke, Beyhan Tüysüz, Chloé Quélin, E. Ranza, Cécile Masson, Geneviève Baujat, Christine Coubes, Valérie Cormier-Daire, Nicolas Levin, Nursel Elcioglu, Lihadh Al-Gazali, Paulien A Terhal, Laurence Faivre, Meriel McEntagart, Diana Johnson, Banu Güzel Nur, Philippe M. Campeau, Ercan Mihci, Alper Gezdirici
المصدر: Clinical Genetics. 91:868-880
مصطلحات موضوعية: 0301 basic medicine, Spondyloepimetaphyseal dysplasia, business.industry, 030105 genetics & heredity, medicine.disease, Bioinformatics, Phenotype, Short stature, 3. Good health, 03 medical and health sciences, Catel–Manzke syndrome, Genetics, Etiology, Medicine, Larsen syndrome, Joint dislocation, medicine.symptom, 10. No inequality, business, Genetics (clinical), Exome sequencing
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المؤلفون: Fiona Haslam McKenzie, Wouter Steyaert, Marije Koopmans, Banu Güzel Nur, Paul Coucke, Bert Callewaert, Siren Berland, Anita Rauch, Ilse Meerschaut, Florence Petit, Emma Wakeling, Edward Blair, Kathelijn Keymolen, Bernadette C. Hanna, Pascale Ribai, Shana De Coninck, Isabelle Migeotte, Frank Plasschaert, Vinod Varghese, Carina Wallgren-Pettersson, Andrew Green, Melissa Lees, Damien Lederer, Anne De Paepe, Angela Barnicoat, Irene Stolte-Dijkstra, Juliette Piard, Irene Valenzuela, Anna de Burca, Jeroen Breckpot, Franco Stanzial, Sally Ann Lynch, Iratxe Salcedo Pacheco, Ercan Mihci, Alison Male, Pradeep Vasudevan, Daniël De Wolf, Francesco Benedicenti, Cheryl Longman, Allan Bayat, Sixto García-Miñaur, Sofie Symoens, Anne Destree
المساهمون: Medical Genetics, Pediatrics
المصدر: Genetics in medicine
Genetics in Medicine, 22(1), 124-131. Nature Publishing Groupمصطلحات موضوعية: Male, Marfan syndrome, Proband, DISORDER, medicine.medical_specialty, Contracture, FIBRILLIN, PATHOGENESIS, Medical laboratory, PROBANDS, Sensitivity and Specificity, Marfan Syndrome, Diagnosis, Differential, congenital contractural arachnodactyly, 03 medical and health sciences, Arachnodactyly, Locus heterogeneity, Internal medicine, medicine, Humans, Genetics(clinical), FBN2 MUTATIONS, Genetic Testing, Congenital contractural arachnodactyly, Child, Kyphoscoliosis, fibrillin-2, Genetics (clinical), Retrospective Studies, 030304 developmental biology, 0303 health sciences, business.industry, DILATATION, 030305 genetics & heredity, Retrospective cohort study, clinical score, Sequence Analysis, DNA, Sciences bio-médicales et agricoles, medicine.disease, MARFAN-SYNDROME, 3. Good health, DELINEATION, Early Diagnosis, Phenotype, diagnostic criteria, Beals syndrome, Female, business
وصف الملف: 1 full-text file(s): application/pdf; application/pdf
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المؤلفون: Ercan Mihci, Elanur Yilmaz, Özgül M. Alper, Banu Güzel Nur
المصدر: American journal of medical genetics. Part AREFERENCES. 179(11)
مصطلحات موضوعية: medicine.medical_specialty, Genotype, Turkey, Physical examination, Craniosynostosis, Craniosynostoses, Coronal suture synostosis, Genetic variation, Genetics, medicine, Basic Helix-Loop-Helix Transcription Factors, Humans, In patient, Genetic Testing, Genetics (clinical), Alleles, Coronal craniosynostosis, medicine.diagnostic_test, business.industry, medicine.disease, Radiography, Phenotype, Amino Acid Substitution, Child, Preschool, Mutation, Female, Craniosynostosis syndromes, Radiology, Genetic diagnosis, business
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