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1دورية أكاديمية
المؤلفون: Ilenia Maini, Stefano G. Caraffi, Francesca Peluso, Lara Valeri, Davide Nicoli, Steven Laurie, Chiara Baldo, Orsetta Zuffardi, Livia Garavelli
المصدر: Genes, Vol 12, Iss 6, p 900 (2021)
مصطلحات موضوعية: NAA10-related syndrome, X-linked disorder, syndromic and non-syndromic intellectual disability, genotype–phenotype correlation, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, Sabina Barresi, Gianluca Contrò, Simone Pizzi, Ilenia Maini, Marzia Pollazzon, Carlo Fusco, Silvia Sassi, Davide Nicoli, Manuela Napoli, Rosario Pascarella, Giancarlo Gargano, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli
المصدر: Genes, Vol 12, Iss 7, p 950 (2021)
مصطلحات موضوعية: adducted thumb, peripheral polyneuropathy, POGZ, White–Sutton syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, Marzia Pollazzon, Sara Giangiobbe, Maurizia Valli, Antonio Rossi, Silvia Sassi, Silvia Faccioli, Maja Di Rocco, Cinzia Magnani, Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Livia Garavelli
المصدر: Genes, Vol 10, Iss 10, p 799 (2019)
مصطلحات موضوعية: beta-1,3-galactosyltransferase 6 (b3galt6), beta-1,4-galactosyltransferase 7 (b4galt7), spondyloepimetaphyseal dysplasia with joint laxity (semdjl1, semdjl-beighton type), ehlers–danlos syndrome (eds), spondylodysplastic ehlers–danlos syndrome (speds), speds-b3galt6, speds-b4galt7, extreme laxity of distal joints, soft, doughy skin on the hands and feet, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Davide Nicoli, Elena Pavlidis, Ilenia Maini, Carlotta Spagnoli, Carlo Fusco, Alessandro Iodice, Daniele Frattini, Grazia Gabriella Salerno, Enrico Farnetti
المصدر: Journal of Pediatric Neurology. 17:149-152
مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, Schwartz–Jampel syndrome, 030105 genetics & heredity, medicine.disease, Heparan Sulfate Proteoglycans, Obesity, Phenotype, 03 medical and health sciences, 0302 clinical medicine, Clinical diagnosis, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, Neurology (clinical), business, Gene, 030217 neurology & neurosurgery, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::55dbb9ba460de02c06d538cd5ac4b13eTest
https://doi.org/10.1055/s-0038-1668163Test -
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المؤلفون: Orsetta Zuffardi, Lara Valeri, Davide Nicoli, Stefano Giuseppe Caraffi, Steven Laurie, Ilenia Maini, Livia Garavelli, Francesca Peluso, Chiara Baldo
المصدر: Genes, Vol 12, Iss 900, p 900 (2021)
Genes
Volume 12
Issue 6مصطلحات موضوعية: 0301 basic medicine, Syndromic and non-syndromic intellectual disability, Adolescent, Genotype, Developmental Disabilities, Mutation, Missense, QH426-470, 030105 genetics & heredity, Article, NAA10-related syndrome, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Missense mutation, Acetyltransferase complex, N-Terminal Acetyltransferase E, N-Terminal Acetyltransferase A, Genetics (clinical), Exome sequencing, business.industry, Genotype–phenotype correlation, NAA10 Gene, Genetic Diseases, X-Linked, Syndrome, medicine.disease, Xq28, Ogden Syndrome, X-linked disorder, Phenotype, 030104 developmental biology, Female, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4959820eb7a4625df7c276a2b4ba84f8Test
http://hdl.handle.net/10230/49030Test -
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المؤلفون: Sabrina Giglio, Allan Bayat, Helen Stewart, Steven Laurie, Livia Garavelli, Renata Rizzo, Marzia Pollazzon, Chiara Baldo, Janice Baker, Chiara Pantaleoni, Simonetta Rosato, Anna Lauriello, Ivan Ivanovski, Aldesia Provenzano, Orsetta Zuffardi, Elena Andreucci, Teresa Mattina, Alyssa Mendel, Davide Nicoli, Giorgia Carboni, Manuela Napoli, Stefano Giuseppe Caraffi, Francesca Peluso, Gabriele Trimarchi, Josue Flores-Daboub, Paolo Prontera, Ilenia Maini, Maria Marinelli, Nancy J. Mendelsohn, Katherine Lachlan, Gianluca Piatelli, Sara Giangiobbe
المصدر: Giangiobbe, S, Caraffi, S G, Ivanovski, I, Maini, I, Pollazzon, M, Rosato, S, Trimarchi, G, Lauriello, A, Marinelli, M, Nicoli, D, Baldo, C, Laurie, S, Flores-Daboub, J, Provenzano, A, Andreucci, E, Peluso, F, Rizzo, R, Stewart, H, Lachlan, K, Bayat, A, Napoli, M, Carboni, G, Baker, J, Mendel, A, Piatelli, G, Pantaleoni, C, Mattina, T, Prontera, P, Mendelsohn, N J, Giglio, S, Zuffardi, O & Garavelli, L 2020, ' Expanding the phenotype of Wiedemann-Steiner syndrome : Craniovertebral junction anomalies ', American Journal of Medical Genetics, Part A, vol. 182, no. 12, pp. 2877-2886 . https://doi.org/10.1002/ajmg.a.61859Test
مصطلحات موضوعية: Adult, Male, Hypertrichosis, Pathology, medicine.medical_specialty, Contracture, Wiedemann–Steiner syndrome, Adolescent, Chiari malformation, Short stature, cervical C2/C3 vertebral fusion, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, craniovertebral junction, Epigenetics, Child, Growth Disorders, Genetics (clinical), Loss function, small foramen magnum, biology, business.industry, Facies, Histone-Lysine N-Methyltransferase, Syndrome, KMT2A, medicine.disease, Phenotype, medicine.anatomical_structure, Wiedemann-Steiner syndrome, Child, Preschool, Mutation, Cervical Vertebrae, Microcephaly, biology.protein, Female, medicine.symptom, business, Myeloid-Lymphoid Leukemia Protein, Cervical vertebrae
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ab3754ed745942da035c6ccf40fb9bTest
https://findresearcher.sdu.dk:8443/ws/files/174125064/ajmg.a.61859.pdfTest -
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المؤلفون: Orsetta Zuffardi, Gabriele Trimarchi, Marco Tartaglia, Marzia Pollazzon, Ilenia Maini, Davide Nicoli, Carlo Fusco, Simone Pizzi, Manuela Napoli, Stefano Giuseppe Caraffi, Livia Garavelli, Rosario Pascarella, Francesca Clementina Radio, Sabina Barresi, Silvia Sassi, Gianluca Contrò, Giancarlo Gargano
المصدر: Genes
Genes, Vol 12, Iss 950, p 950 (2021)
Volume 12
Issue 7مصطلحات موضوعية: Male, 0301 basic medicine, peripheral polyneuropathy, Pediatrics, medicine.medical_specialty, Microcephaly, Autism Spectrum Disorder, POGZ, White–Sutton syndrome, Transposases, QH426-470, Short stature, Article, Polyneuropathies, 03 medical and health sciences, adducted thumb, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics (clinical), business.industry, Brachydactyly, Infant, medicine.disease, Hypotonia, Natural history, 030104 developmental biology, Chromosomes, Human, Pair 1, Autism, Female, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7610132e478dd5e335e8858071457b37Test
https://doi.org/10.3390/genes12070950Test -
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المؤلفون: Ivan Ivanovski, Federica Baccilieri, Marco Tartaglia, Livia Garavelli, Ilenia Maini, Marzia Pollazzon, Lorenzo Iughetti, Simonetta Rosato, Sheila Unger, Andrea Superti-Furga
المصدر: European Journal of Pediatrics. 175:1307-1315
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Pediatrics, Mutation, Missense, Nails, Malformed, 030105 genetics & heredity, Short stature, Myhre syndrome, Fingers, 03 medical and health sciences, Intellectual Disability, Cryptorchidism, Intellectual disability, medicine, Humans, Pericarditis, Laryngotracheal stenosis, Child, Cardiac tamponade, Growth Disorders, Retrospective Studies, Smad4 Protein, business.industry, Brachydactyly, Facies, Autosomal dominant trait, medicine.disease, Surgery, Radiography, Natural history, Developmental disorder, Phenotype, Pediatrics, Perinatology and Child Health, medicine.symptom, business, Hand Deformities, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::560aef2f974ddd096205c1742dcc34edTest
https://doi.org/10.1007/s00431-016-2761-3Test -
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المؤلفون: Livia Garavelli, L. Matalonga, Ivan Ivanovski, Stefano Giuseppe Caraffi, Ilenia Maini, Steven Laurie, Chiara Baldo, Chiara Gelmini, Simonetta Rosato, Marzia Pollazzon, M.L. De Bernardi, E. Farnetti
المصدر: Neuropediatrics. 49:222-224
مصطلحات موضوعية: 0301 basic medicine, Postaxial polydactyly, Pathology, medicine.medical_specialty, Fingers, 03 medical and health sciences, medicine, Cyclin D2, Humans, Megalencephaly, Child, business.industry, General Medicine, Toes, medicine.disease, Perisylvian polymicrogyria, Hydrocephalus, Polydactyly, 030104 developmental biology, Polymicrogyria, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44486ec623267c2f63d109cf8bb1f342Test
https://doi.org/10.1055/s-0038-1641722Test -
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المؤلفون: Maria E. Street, Chiara Sartori, Ilenia Maini, Maria Marinelli, Manuela Mussini, Livia Garavelli, Ivan Ivanovski, Francesca Madia, Simonetta Rosato, Elga Fabia Belligni, Marzia Pollazzon, Alessandro Iodice, Manuela Napoli, Veronica Barbieri, Carlo Fusco, Rosario Pascarella, Charles Coutton, Fabrizia Franchi
المصدر: Molecular Syndromology. 7:337-343
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Novel Insights from Clinical Practice, Feature (computer vision), Intellectual disability, Genetics, Medicine, business, Psychiatry, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed0731f97b7a6bf8df5a1d0de66db1e9Test
https://doi.org/10.1159/000450718Test