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1
المؤلفون: M. Biagioli, R. Bianco, G. Bussi, G. F. Davi, Margherita Silengo, Piergiorgio Franceschini, M. Cavallo
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Gynecology, medicine.medical_specialty, Microcephaly, Contracture, business.industry, Infant, Newborn, Genes, Recessive, Syndrome, medicine.disease, Facial Expression, Phenotype, Cerebrooculofacioskeletal Syndrome, COFS - Cerebro-oculo-facio-skeletal syndrome, Pregnancy, Genetics, Humans, Medicine, Abnormalities, Multiple, Female, Joints, business, Genetics (clinical)
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2
المؤلفون: G. F. Davi, G. Prandi, M. Cirillo Silengo, Santoro Ma, Claudio Fabris, Piergiorgio Franceschini
المصدر: Human Genetics. 44:345-348
مصطلحات موضوعية: Chromosome 7 (human), Genetics, Chromosomal translocation, Metabolic disease, Biology, Long arm, Molecular medicine, Genetics (clinical), Human genetics, Maternal grandmother
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3
المؤلفون: M. Cirillo Silengo, Piergiorgio Franceschini, G. F. Davi
المصدر: Acta Paediatrica. 68:769-771
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pathology, Clinodactyly, business.industry, General Medicine, Synostosis, medicine.disease, 48, XXXX, Palpebral fissure, Pediatrics, Perinatology and Child Health, medicine, Medical genetics, 49, XXXXX, Hypertelorism, medicine.symptom, 49, XXXXY syndrome, business
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4
المؤلفون: Piergiorgio Franceschini, G. F. Davi, M. Biagioli, R. Bianco, M. Cirillo Silengo
مصطلحات موضوعية: Adult, Genetics, business.industry, Chromosomes, Human, 1-3, Biology, Long arm, Molecular medicine, Human genetics, Text mining, Chromosome 3, Intellectual Disability, Humans, Abnormalities, Multiple, Female, Chromosome Deletion, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a1e43f7570c1aed6a96c320b915270
http://hdl.handle.net/2318/121204 -
5
المؤلفون: Piergiorgio Franceschini, Margherita Silengo, G. F. Davi
مصطلحات موضوعية: Adult, Chromosomes, Human, 6-12 and X, Male, Genetics, Chromosome (genetic algorithm), Humans, Infant, Abnormalities, Multiple, Biology, Genetics (clinical), Human genetics, Chromosome Banding
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3fbda6fa3328c9571ba9a7eaa9ccc4c
http://hdl.handle.net/2318/119627 -
6
المؤلفون: P, Franceschini, M C, Silengo, G F, Davi, M A, Santoro, G, Prandi, C, Fabris
المصدر: Human genetics. 44(3)
مصطلحات موضوعية: Chromosomes, Human, 6-12 and X, Phenotype, Infant, Newborn, Humans, Abnormalities, Multiple, Female, Chromosome Deletion, Translocation, Genetic
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7
المؤلفون: M, Cirillo Silengo, G F, Davi, R, Bianco, A, De Marco, M, Costa, P, Franceschini, G, Bonenti
مصطلحات موضوعية: Adult, Hypertelorism, Face, Intellectual Disability, Skull, Infant, Newborn, Humans, Female, Eye Abnormalities, Syndrome, Nose, Hand Deformities, Congenital
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fdb0d4a4a18437731254bf298681fa12
http://hdl.handle.net/2318/117368 -
8
المؤلفون: Piergiorgio Franceschini, G. F. Davi, Giuseppe Novelli, Andrea Guala, M. Biagioli, R. Bianco, Margherita Silengo
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Genetic Markers, Heart Defects, Congenital, Heart disease, Chromosome Disorders, Biology, Long arm, Intellectual Disability, Genetics, medicine, Humans, Deletion syndrome, Abnormalities, Multiple, Genetics (clinical), Chromosome Aberrations, Psychomotor retardation, Chromosomes, Human, 1-3, Chromosome, Infant, Syndrome, medicine.disease, Chromosome Banding, Failure to thrive, Female, medicine.symptom, Chromosome Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1428bcd8e7e0c7036e09b55e865e9e1
http://hdl.handle.net/2318/118038 -
9
المؤلفون: G. F. Davi, Piergiorgio Franceschini, M. Costa, R. Bianco, R. Ve, M. Cirillo Silengo, A. DeMarco
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Ectodermal dysplasia, Maxillary hypoplasia, media_common.quotation_subject, Ectodermal Dysplasia, Genetics, medicine, Humans, Child, Genetics (clinical), media_common, Pili torti, Daughter, integumentary system, business.industry, Rapp-Hodgkin ectodermal dysplasia syndrome, Anatomy, Syndrome, medicine.disease, Hypodontia, medicine.anatomical_structure, Scalp, Female, medicine.symptom, business, Hair Diseases, Rapp–Hodgkin syndrome, Hair
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10
المؤلفون: G F, Davi, M, Silengo, M, Bertone, P, Franceschini
المصدر: Pathologica. 71(1013)
مصطلحات موضوعية: Chromosomes, Human, 21-22 and Y, Immunologic Deficiency Syndromes, Humans, Trisomy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1e85f9a380507a692ed48ccee31e1285
https://pubmed.ncbi.nlm.nih.gov/548882