المؤلفون: Mucciolo, M., Magini, P., Marozza, A., Mongelli, P., Mencarelli, M.A., Hayek, G., Tavalazzi, F., Mari, F., Seri, M., Renieri, A., Graziano, C.

المصدر: American Journal of Medical Genetics Part A ; volume 164, issue 3, page 685-690 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.36361Test

المؤلفون: MILLER‐GRAZIANO, C. L., KODYS, K., JHAVER, K.

المصدر: Annals of the New York Academy of Sciences ; volume 730, issue 1, page 307-309 ; ISSN 0077-8923 1749-6632

الإتاحة: https://doi.org/10.1111/j.1749-6632.1994.tb44275.xTest

المؤلفون: Marano, G., Fischioni, P., Graziano, C., Iannone, M., Morisi, G.

المصدر: Pharmacology & Toxicology ; volume 67, issue 2, page 120-122 ; ISSN 0901-9928

الإتاحة: https://doi.org/10.1111/j.1600-0773.1990.tb00796.xTest

المؤلفون: Paul L. Goldiner, Graziano C. Carlon, Joseph G. Fortner, Barbara J. Maclean, Alan D. Turnbull, Dong K. Kim, Edward J. Beattie, William S. Howland

المصدر: Cancer. 47:2162-2166

مصطلحات موضوعية: Liver surgery, Cancer Research, medicine.medical_specialty, Surgical approach, Colorectal cancer, business.industry, Adjuvant chemotherapy, medicine.medical_treatment, Operative mortality, Cancer, Liver transplantation, medicine.disease, Surgery, Liver disease, Oncology, medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::40525ab045ab9c4373d9a38909546c56Test
https://doi.org/10.1002/1097-0142Test(19810501)47:9<2162::aid-cncr2820470909>3.0.co;2-5

المؤلفون: Elisa Giorgio, Alfredo Brusco, Claudio Graziano, Pamela Magini, Donatella Greco, Diana Carli, Giovanni Battista Ferrero, Corrado Romano, Ornella Galesi, Giovanni Innella

المساهمون: Innella G., Greco D., Carli D., Magini P., Giorgio E., Galesi O., Ferrero G.B., Romano C., Brusco A., Graziano C.

المصدر: American Journal of Medical Genetics Part A. 185:608-613

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Skeletal anomalies, MEDLINE, Biology, SOX5, Lamb–Shaffer syndrome, mosaicism, soxopathy, LAMB-SHAFFER SYNDROME, genetic disease, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Preschool, Genetics (clinical), Aged, Lamb-Shaffer syndrome, skeletal anomalies, Middle Aged, medicine.disease, neurodevelopmental syndrome, DNA-Binding Proteins, Neurodevelopmental Disorders, intellectual disability, Child, Preschool, SOX5, Lamb-Shaffer syndrome, neurodevelopmental syndrome, genetic disease, intellectual disability, skeletal anomalies, Female, SOX5, SOXD Transcription Factors

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b4315fa42b838e074787b6e3931b0dTest
https://doi.org/10.1002/ajmg.a.62001Test

المؤلفون: Giovanni Romeo, Filomena Moscano, Marco Seri, Simonetta Guidelli Guidi, Laura Mazzanti, Emilio Franzoni, Angela Valentina D'Elia, Giuseppe Damante, Emanuela Scarano, Claudio Graziano, Daniela Turchetti

المساهمون: Graziano C., D'Elia AV., Mazzanti L., Moscano F., Guidelli Guidi S., Scarano E., Turchetti D., Franzoni E., Romeo G., Damante G., Seri M.

المصدر: American Journal of Medical Genetics Part A. :1802-1805

مصطلحات موضوعية: Male, Parents, medicine.medical_specialty, Ataxia, PAX6 Transcription Factor, Eye disease, Nonsense mutation, Neurological disorder, Bioinformatics, Central nervous system disease, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Paired Box Transcription Factors, Child, Eye Proteins, Aniridia, Genetics (clinical), Homeodomain Proteins, business.industry, medicine.disease, Repressor Proteins, Developmental disorder, Endocrinology, PAX6, aniridia, ataxia, mental retardation, Codon, Nonsense, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Female, PAX6, medicine.symptom, business

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b750f50c2e49915861a5b312dd2deef4Test
https://doi.org/10.1002/ajmg.a.31808Test

المؤلفون: Simona Ferrari, Claudio Graziano, Donatella Greco, Daniela Turchetti, Elisabetta Razzaboni, Hila Zomer, Cesare Rossi, Marco Seri, Giovanni Romeo

المساهمون: Turchetti D., Razzaboni E., Zomer H., Rossi C., Ferrari S., Greco D., Graziano C., Romeo G., Seri M.

المصدر: Prenatal Diagnosis. 26:1156-1159

مصطلحات موضوعية: Adult, Male, Heterozygote, Pediatrics, medicine.medical_specialty, Ubiquitin-Protein Ligases, Genetic Counseling, Prenatal diagnosis, TERMINATION OF PREGNANCY, Abortion, ANGELMAN SYNDROME, PRENATAL DIAGNOSIS, Pregnancy, Angelman syndrome, Internal medicine, Happy puppet syndrome, medicine, UBE3A, Humans, UBE3A GENE, Family, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Infant, Newborn, Obstetrics and Gynecology, Abortion, Induced, medicine.disease, Pedigree, Fetal Diseases, Endocrinology, Mutation, Female, business, Stress, Psychological, PSYCHOLOGICAL OUTCOME, Psychopathology

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe3bef6791a6234e9c8d21ddcd36e8c3Test
https://doi.org/10.1002/pd.1577Test

المؤلفون: Marco Seri, Pamela Magini, Andrea Superti-Furga, Michèle David, Claudio Graziano

المساهمون: Graziano C, David M, Magini P, Superti-Furga A, Seri M.

المصدر: American Journal of Medical Genetics Part A. :3211-3213

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Thrombocytosis, Limb defects, business.industry, Association (object-oriented programming), medicine.disease, Dermatology, THPO mutation, thrombocytosi, medicine, limb defects, business, Genetics (clinical)

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10762c6c5b4355e2bd3af96b20502905Test
https://doi.org/10.1002/ajmg.a.35656Test