المؤلفون: Katzaki, E, Morin, G, Pollazzon, M, Papa, Ft, Buoni, S, Hayek, J, Andrieux, J, Lecerf, L, Popovici, C, Receveur, A, MATHIEU DRAMARD, M, Renieri, Alessandra, Mari, Francesca, Philip, N., Papa, FILOMENA TIZIANA

المصدر: American Journal of Medical Genetics Part A. :1711-1717

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Chromosomes, Human, Pair 21, Platelet disorder, Young Adult, Myelogenous, Pregnancy, Intellectual Disability, hemic and lymphatic diseases, Genetics, Humans, Medicine, Young adult, Child, Genetics (clinical), Comparative Genomic Hybridization, business.industry, Infant, Newborn, Infant, Syndrome, Mild dysmorphic features, medicine.disease, Thrombocytopenia, Developmental disorder, Leukemia, Child, Preschool, Female, Chromosome Deletion, business, Chromosome 21, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f36957cf59dc606b323f87eec71fe8ac
https://doi.org/10.1002/ajmg.a.33478

المؤلفون: Bijlsma, E.K., Collins, A., Papa, F.T., Tejada, M.I., Wheeler, P., Peeters, E.A.J., Gijsbers, A.C.J., van de Kamp, J.M., Kriek, M., Losekoot, M., Broekma, A.J., Crolla, J.A., Pollazzon, M., Mucciolo, M., Katzaki, E., Disciglio, V., Ferreri, M.I., Marozza, A., Mencarelli, M.A., Castagnini, C., Dosa, L., Ariani, F., Mari, F., Canitano, R., Hayek, G., Botella, M.P., Gener, B., Mínguez, M., Renieri, A., Ruivenkamp, C.A.L.

المصدر: In European Journal of Medical Genetics June-July 2012 55(6-7):404-413

المؤلفون: Bijlsma, E. K., Collins, A., Papa, F. T., Tejada, M. I., Wheeler, P., Peeters, E. A., Gijsbers, A. C., van de Kamp, J. M., Kriek, M., Losekoot, M., Broekma, A. J., Crolla, J. A., Pollazzon, M., Mucciolo, M., Katzaki, E., Disciglio, V., Ferreri, M. I., Marozza, A., Mencarelli, M. A., Castagnini, C., Dosa, L., Ariani, Francesca, Mari, Francesca, Canitano, R., Hayek, G., Botella, M. P., Gener, B., Mínguez, M., Renieri, Alessandra, Ruivenkamp, C. A., Papa, FILOMENA TIZIANA

المصدر: European Journal of Medical Genetics, 55(6-7), 404-413
European Journal of Medical Genetics

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Methyl-CpG-Binding Protein 2, MECP2 duplication syndrome, Chromosomal translocation, Biology, IRAK1, X-inactivation, MECP2, MECP2 duplication, X Chromosome Inactivation, Clinical Research, Intellectual Disability, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetic Association Studies, Genetics (clinical), Chromosomes, Human, X, Chromosome, Karyotype, General Medicine, medicine.disease, Chromosome Banding, Pedigree, nervous system diseases, Xq28, Phenotype, Xq28 duplication, Female, Mental retardation in females

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2afa3c743335d55cdd1765d89ccd700a
https://doi.org/10.1016/j.ejmg.2012.02.009

المؤلفون: Sampieri, K, Amenduni, M, Papa, Ft, Katzaki, E, Mencarelli, Ma, Marozza, A, Epistolato, Mc, Toti, Paolo, Lazzi, Stefano, Bruttini, M, De Filippis, R, DE FRANCESCO, Sonia, Longo, I, Meloni, Ilaria, Mari, Francesca, Acquaviva, Antonio, Hadjistilianou, Theodora, Renieri, Alessandra, Ariani, Francesca, Papa, FILOMENA TIZIANA

مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, Retinal Neoplasms, Eye disease, DNA Mutational Analysis, Biology, Retinoblastoma Protein, Lesion, Chromosome instability, Image Processing, Computer-Assisted, medicine, Humans, Age of Onset, Genes, Retinoblastoma, Comparative Genomic Hybridization, Retinoblastoma, Lasers, Infant, Cancer, General Medicine, medicine.disease, Antibodies, Anti-Idiotypic, Oncology, Child, Preschool, Mutation, medicine.symptom, Microdissection, Unilateral Retinoblastoma, Retinopathy, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::709b62a7d61e658b7cabb1b64c20a91a
http://hdl.handle.net/11365/20938

المؤلفون: Mencarelli, Ma, Kleefstra, T, Katzaki, E, Papa, Ft, Cohen, M, Pfundt, R, Ariani, Francesca, Meloni, Ilaria, Mari, Francesca, Renieri, Alessandra, Papa, FILOMENA TIZIANA

المصدر: European Journal of Medical Genetics, 52, 2-3, pp. 148-52
European Journal of Medical Genetics, 52, 148-52

مصطلحات موضوعية: medicine.medical_specialty, Depressed nasal bridge, Rett syndrome, Chromosome Disorders, Nerve Tissue Proteins, Central nervous system disease, Genomic disorders and inherited multi-system disorders [IGMD 3], Degenerative disease, Genetics, medicine, Rett Syndrome, Humans, Genetics (clinical), Chromosomes, Human, Pair 14, business.industry, Point mutation, Infant, Forkhead Transcription Factors, General Medicine, Syndrome, Microdeletion syndrome, medicine.disease, Dermatology, Phenotype, FOXG1, Face, Female, Chromosome Deletion, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d012166207c4296bde9af3e7321e36e
https://hdl.handle.net/2066/81782

المؤلفون: Pollazzon, M., Grosso, S., Papa, F.T., Katzaki, E., Marozza, A., Mencarelli, M.A., Uliana, V., Balestri, P., Mari, F., Renieri, A.

المصدر: In European Journal of Medical Genetics 2009 52(2):131-133

المؤلفون: Katzaki, E., Papa, F. T., Mucciolo, M., Uliana, V., Renieri, Alessandra, Papa, FILOMENA TIZIANA

المصدر: Molecular and Cellular Endocrinology. 313:70-70

مصطلحات موضوعية: Genetics, Endocrinology, HSD17B1, Biology, Sex reversal, Molecular Biology, Biochemistry, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ccbe3900d3941a6cff03d803c527ade
https://doi.org/10.1016/j.mce.2009.07.018

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