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المؤلفون: Gozde Yesil, Nilay Güneş, Busra Kasap, Tiraje Celkan, Rejin Kebudi, Filiz Geyik, Beyhan Tüysüz
المساهمون: YEŞİL, Gözde
المصدر: Annals of Human Genetics. 85:155-165
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Turkey, Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients-, ANNALS OF HUMAN GENETICS, 2021 [Gunes N., YEŞİL G., Geyik F., Kasap B., Celkan T., Kebudi R., TÜYSÜZ B., -Neurofibromatosis type 1], Genotype phenotype, Correlation, Young Adult, 03 medical and health sciences, Age groups, Genetics, Humans, Medicine, In patient, Multiplex, Multiplex ligation-dependent probe amplification, Neurofibromatosis, Child, neoplasms, Genetic Association Studies, Genetics (clinical), Retrospective Studies, 030304 developmental biology, 0303 health sciences, business.industry, 030305 genetics & heredity, Infant, medicine.disease, Phenotype, eye diseases, nervous system diseases, Child, Preschool, population characteristics, Female, business, Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245de901af46dc132487b061e1be4b4fTest
https://doi.org/10.1111/ahg.12422Test -
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المؤلفون: Gozde Yesil, Mehmet Vural, Beyhan Tüysüz, Tiraje Celkan, Filiz Geyik, Nilay Güneş
المصدر: American journal of medical genetics. Part AREFERENCES. 185(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Genotype, 030105 genetics & heredity, Epigenesis, Genetic, 03 medical and health sciences, Epigenome, Genomic Imprinting, Genetics, Macroglossia, Medicine, Prognathism, Humans, Imprinting (psychology), Child, Cyclin-Dependent Kinase Inhibitor p57, Genetics (clinical), business.industry, Chromosome, Infant, Methylation, DNA Methylation, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Female, medicine.symptom, business, Genomic imprinting
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::042a6e7c5038f30902ce9fca3eb8f961Test
https://pubmed.ncbi.nlm.nih.gov/33704912Test