-
1
المؤلفون: Marcella Palmisano, Maria Paola Bonasoni, Viola Alesi, Gabriele Tonni, Maria Bellotti, Marta Bertoli
المصدر: Congenital Anomalies. 55:65-70
مصطلحات موضوعية: Embryology, Fetus, medicine.medical_specialty, medicine.diagnostic_test, Obstetrics, Genetic counseling, Chorionic villus sampling, Karyotype, General Medicine, Biology, medicine.disease, Pediatrics, Perinatology and Child Health, medicine, Gestation, Increased nuchal translucency, Developmental Biology, Comparative genomic hybridization, Tetralogy of Fallot
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2c9d48bd791702f9b0e14ce97ab9cc97Test
https://doi.org/10.1111/cga.12078Test -
2
المؤلفون: C. Palmieri, Anna Maria Nardone, Stefania Zampatti, Francesca Gullotta, M.R. Abate, Marina Frontali, Antonio Novelli, Viola Alesi, Marta Bertoli
المصدر: American journal of medical genetics. Part A 161 (2013): 2004–2008. doi:10.1002/ajmg.a.35991
info:cnr-pdr/source/autori:Bertoli M.; Alesi V.; Gullotta F.; Zampatti S.; Abate M.R.; Palmieri C.; Novelli A.; Frontali M.; Nardone A.M./titolo:Another patient with 12q13 microduplication/doi:10.1002%2Fajmg.a.35991/rivista:American journal of medical genetics. Part A/anno:2013/pagina_da:2004/pagina_a:2008/intervallo_pagine:2004–2008/volume:161مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hyperkeratosis, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosome 12, Phenocopy, Comparative Genomic Hybridization, Chromosomes, Human, Pair 12, Wolf-Hirschhorn Syndrome, business.industry, medicine.disease, Phenotype, Associated phenotype, Wolf-Hirschhorn syndrome phenocopy, Review Literature as Topic, Homogeneous, Female, 12q13 duplication, Chromosome Deletion, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eff38363dcbb49e786551132b837614fTest
https://doi.org/10.1002/ajmg.a.35991Test -
3
المؤلفون: Nicoletta Resta, Anna Maria Nardone, Donatella Capodiferro, Carmela Serlenga, Francesco Susca, Marta Bertoli, Nicola Laforgia, Diana Pastorivo, Federico Schettini, Lucrezia Maria de Cosmo, MariaGabriella Burattini
المصدر: American Journal of Medical Genetics Part A. 161:632-636
مصطلحات موضوعية: Genetics, Monosomy, Craniofacial abnormality, Chromosomal translocation, Trigonocephaly, Biology, Cortical dysplasia, medicine.disease, medicine, Craniofacial, Trisomy, Genetics (clinical), Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6b8cd1541666d8ec3faa63b8062f760bTest
https://doi.org/10.1002/ajmg.a.35777Test -
4
المؤلفون: Giuseppe Barrano, Anna Capalbo, Mario Pacella, Cristina Haass, Daria Darelli, Viola Alesi, Marta Bertoli, Antonio Novelli, Katia Petrilli, Sara Morara, Maurizio Finocchi
المصدر: American Journal of Medical Genetics Part A. 155:2543-2551
مصطلحات موضوعية: Male, Genetics, Comparative Genomic Hybridization, Infant, Trigonocephaly, Biology, medicine.disease, Phenotype, Metopic craniosynostosis, Craniosynostosis, Craniosynostoses, Chromosome 4, Karyotyping, medicine, Humans, Chromosome Deletion, Chromosomes, Human, Pair 4, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4eed972d34468ea008dfa693685b23Test
https://doi.org/10.1002/ajmg.a.34201Test