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1Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
المؤلفون: Valentina Fodale, Viviana Caputo, Chiara Leoni, Andrea Ciolfi, Daniela Melis, Marco Tartaglia, Giuseppe Zampino, Laura Mazzanti, Antonio Pizzuti, Maria Francesca Bedeschi, Elisabetta Flex
المساهمون: Flex, Elisabetta, Ciolfi, Andrea, Caputo, Viviana, Fodale, Valentina, Leoni, Chiara, Melis, Daniela, Bedeschi, Maria Francesca, Mazzanti, Laura, Pizzuti, Antonio, Tartaglia, Marco, Zampino, Giuseppe
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Male, Ubiquitin-Protein Ligase, Microcephaly, Optic disk, Telecanthus, TUMOR-SUPPRESSOR GENE, PHENOTYPE, Kaufman oculocerebrofacial syndrome, Congenital, Diagnosis, Developmental, Exome, Genome-wide, Molecular genetics, Eye Abnormalities, Child, Author Keywords:Clinical genetics, Molecular genetics KeyWords Plus:JUVENILE MYELOMONOCYTIC LEUKEMIA, DNA-SEQUENCING DATA, GERMLINE MUTATIONS, ANGELMAN SYNDROME, IDENTIFICATION, DELINEATION, DEFICIENCY, EXPRESSION, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, Homozygote, Hypotonia, Pedigree, Limb Deformities, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, clinical genetics, diagnosis, developmental, molecular genetics, genome-wide, symbols, Female, New Disease Loci, medicine.symptom, Diagnosi, Human, Clinical genetic, Ubiquitin-Protein Ligases, Molecular Sequence Data, Limb Deformities, Congenital, Biology, symbols.namesake, Genetic, Intellectual Disability, medicine, Humans, Clinical genetics, Base Sequence, Facies, medicine.disease, Facie, Protein ubiquitination, Eye Abnormalitie, Mutation, Molecular genetic
وصف الملف: ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80d301ee366c85b12605f6f6f4cad004Test
http://europepmc.org/articles/PMC3717725Test -
2دورية أكاديميةLoss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
المؤلفون: E. Flex, V. Fodale, C. Leoni, D. Melis, M. F. Bedeschi, L. Mazzanti, M. Tartaglia, G. Zampino, CIOLFI, ANDREA, CAPUTO, VIVIANA, PIZZUTI, Antonio
المساهمون: E., Flex, Ciolfi, Andrea, Caputo, Viviana, V., Fodale, C., Leoni, D., Meli, M. F., Bedeschi, L., Mazzanti, Pizzuti, Antonio, M., Tartaglia, G., Zampino
مصطلحات موضوعية: clinical genetic, diagnosi, developmental, molecular genetic, genome-wide
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23687348; info:eu-repo/semantics/altIdentifier/wos/WOS:000322123200001; volume:50; issue:8; firstpage:493; lastpage:499; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11573/516432Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883199248; http://jmg.bmj.com/content/50/8/493.longTest
الإتاحة: https://doi.org/10.1136/jmedgenet-2012-101405Test
http://hdl.handle.net/11573/516432Test
http://jmg.bmj.com/content/50/8/493.longTest