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1
المؤلفون: Orsetta Zuffardi, Roberto Ciccone, S. Santaniello, Maria Antonietta Melis, Gabriella Sole, Cristiana Meloni, R. Congiu, Mario Loi, Francesco Emma, Antonio Cao, Maria Addis, Milena Cau
المصدر: Journal of Human Genetics. 51:1030-1036
مصطلحات موضوعية: Genetic Markers, Male, RNA, Untranslated, Locus (genetics), Biology, X-inactivation, X hyperactivation, Cytogenetics, X Chromosome Inactivation, Genetics, Humans, Skewed X-inactivation, Genetics (clinical), X-linked recessive inheritance, X chromosome, Family Health, Chromosomes, Human, X, Haplotype, Karyotype, Sequence Analysis, DNA, Molecular biology, Phosphoric Monoester Hydrolases, Pedigree, Oculocerebrorenal Syndrome, Haplotypes, Karyotyping, Female, RNA, Long Noncoding
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2
المؤلفون: Angelo Labate, Antonio Gambardella, Aldo Quattrone, Ugo Leggio, Roberta Ambrosio, Eleonora Colosimo, Mario Loi
المصدر: Brain and Development. 28:170-174
مصطلحات موضوعية: Adult, Male, Spasm, During meal, Left Deltoid, Temporal lobe, Feeding and Eating Disorders, Epilepsy, Developmental Neuroscience, Seizures, Reflex, medicine, Humans, Child, Muscle, Skeletal, Electromyography, Brain, Ictal eeg, Electroencephalography, General Medicine, medicine.disease, Trunk, Food, Dysplasia, Anesthesia, Pediatrics, Perinatology and Child Health, Neurology (clinical), Stereotyped Behavior, Psychology, Photic Stimulation, Muscle Contraction
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3
المؤلفون: Valentina Cabras, Matteo Erriu, A Milia, Mario Loi, Caterina Montaldo, Anna Lisa Nucaro
المصدر: Journal of Clinical Pathology. 65:851-853
مصطلحات موضوعية: Psychomotor learning, Pediatrics, medicine.medical_specialty, Pathology, Ring chromosome 20, General Medicine, Status epilepticus, Biology, medicine.disease, Genome, Pathology and Forensic Medicine, Epilepsy, Pharmacotherapy, Refractory, Gene duplication, medicine, medicine.symptom
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4
المؤلفون: Maria Addis, Maurizio Melis, Cristiana Meloni, Marianna Serrenti, R. Congiu, Alberto Loi, Milena Cau, Mario Loi, Maria Antonietta Melis
المصدر: European journal of medical genetics. 52(5)
مصطلحات موضوعية: Male, Hemangioma, Cavernous, Central Nervous System, Nonsense mutation, Population, Biology, Interviews as Topic, Exon, Proto-Oncogene Proteins, Genetics, Humans, Age of Onset, education, KRIT1 Protein, Genetics (clinical), education.field_of_study, Haplotype, General Medicine, Nucleic acid amplification technique, DNA, Exons, Sequence Analysis, DNA, Penetrance, Founder Effect, Pedigree, Haplotypes, Italy, Codon, Nonsense, Mutation (genetic algorithm), Mutation, Female, Microtubule-Associated Proteins, Nucleic Acid Amplification Techniques, Founder effect
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5
المؤلفون: Paola Melis, Anna Lisa Nucaro, Orsetta Zuffardi, Marta Meloni, Tiziana Pisano, Mario Loi, Simona Corona, Rossano Rossino, Francesco Achena, Carlo Cianchetti, Elena Rossi
المصدر: American journal of medical genetics. Part A. (24)
مصطلحات موضوعية: Genetics, Male, Monosomy, Comparative Genomic Hybridization, Chromosomes, Human, Pair 10, Aneuploidy, Chromosomal translocation, Trisomy, Biology, medicine.disease, Familial translocation, Translocation, Genetic, Pedigree, medicine, Humans, Family, Female, Chromosomes, Human, Pair 3, Genetics (clinical)
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6
المؤلفون: Michele Tinazzi, Salvatore Maria Aglioti, Paolo Liberini, Giovanni Defazio, Mario Loi, Giovanni Cossu, Kailash P. Bhatia, Enza Maria Valente, Antonio Fiaschi, Mirta Fiorio, Giuseppe Moretto, Mattia Gambarin
مصطلحات موضوعية: Adult, Male, Heterozygote, Time Factors, Dystonia Musculorum Deformans, Vision Disorders, Sensory system, Stimulus (physiology), Torsion dystonia, Judgment, Discrimination, Psychological, Sensory threshold, Psychophysics, medicine, Humans, DYT1 gene, dystonia, sensory systems, temporal discrimination, endophenotype, Aged, Family Health, Dystonia, Middle Aged, Focal dystonia, medicine.disease, Penetrance, Phenotype, Touch, Sensory Thresholds, Mutation, Sensation Disorders, Female, Neurology (clinical), Psychology, Neuroscience, Molecular Chaperones
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7b95c31aeb3be440c4f84ded6d22ba
http://hdl.handle.net/11573/79849 -
7
المؤلفون: Milena Cau, Carmen Lepiani, Maria Antonietta Melis, Maria Addis, Mario Loi
المصدر: Human mutation. 23(5)
مصطلحات موضوعية: Adult, Male, Positional cloning, Adolescent, Oculocerebrorenal syndrome, media_common.quotation_subject, Nonsense, DNA Mutational Analysis, Biology, Frameshift mutation, Genetics, medicine, Missense mutation, Humans, Child, Gene, Genetics (clinical), media_common, Inositol Polyphosphate 5-Phosphatases, medicine.disease, Phosphoric Monoester Hydrolases, Oculocerebrorenal Syndrome, Italy, Child, Preschool, Mutation, Mutation testing, OCRL, Female
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8
المؤلفون: Alberto Albanese, Mario Loi, Tamara Ialongo, Pietro Attilio Tonali, Enza Maria Valente, Anna Rita Bentivoglio
المصدر: Movement disorders : official journal of the Movement Disorder Society. 17(5)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Pediatrics, Movement disorders, Disease, Neurological disorder, medicine.disease_cause, medicine, Psychogenic disease, Humans, Dystonia, Mutation, Genetic heterogeneity, Genetic Variation, Videotape Recording, Middle Aged, medicine.disease, Penetrance, Pedigree, Phenotype, Neurology, Dystonic Disorders, Female, Neurology (clinical), medicine.symptom, Psychology, Carrier Proteins, Chromosomes, Human, Pair 9, Molecular Chaperones
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9دورية أكاديمية
المؤلفون: Mirta Fiorio, Mattia Gambarin, Enza Maria Valente, Paolo Liberini, Mario Loi, Giovanni Cossu, Giuseppe Moretto, Kailash P. Bhatia, Giovanni Defazio, Salvatore M. Aglioti, Antonio Fiaschi, Michele Tinazzi
المصدر: Brain: A Journal of Neurology; Jan2007, Vol. 130 Issue 1, p134-142, 9p
مصطلحات موضوعية: DYSTONIA, MUSCLE diseases, ETIOLOGY of diseases, GENETICS
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10
المؤلفون: Loretta Ghersini, Renata Lorini, Lisa Poloni, Giorgio Gimelli, Daniela Tonetti, Diletta Peretti, Paola Maraschio, Christa Fonatsch, Orsetta Zuffardi, G. Zamboni, Sibylle D. Flatz, Franca Bernardi, Mario Loi, C. De Paoli, Mauro Bozzola, Roberta Vanni
المصدر: Human Genetics. 57:345-350
مصطلحات موضوعية: Male, Adolescent, Trisomy, Biology, Chromosome 15, Developmental retardation, Seizures, Intellectual Disability, Genetics, Homologous chromosome, Humans, Abnormalities, Multiple, Derivation, Child, Growth Disorders, Genetics (clinical), Infant, Chromosome, Human genetics, Phenotype, Chromosome Inversion, dup, Female, Chromatid, Chromosomes, Human, 13-15