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

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