Search results for "Genetica"

showing 10 items of 906 documents

Epidemiologia Della Sordità Geneticamente Trasmessa Nella Popolazione Siciliana

2005

Settore MED/38 - Pediatria Generale E SpecialisticaSORDITA' GENETICAMENTE TRASMESSA GJB2 GENE SEQUENZIAMENTO.
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WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION.

2015

15q13.3 microduplication syndrome, genomic rearrangment, gentotype-phenotype correlation

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica Medica15q13.3 microduplication syndrome genomic rearrangment gentotype-phenotype correlation
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INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL C…

2016

INTELLECTUAL DISABILITY, EPILEPSY, MILD DYSMORPHISMS, 22q11.2 DISTAL DUPLICATION

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaINTELLECTUAL DISABILITY EPILEPSY MILD DYSMORPHISMS 22q11.2 DISTAL DUPLICATION
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Disabilità Intellettiva, riarrangiamenti genomici, ittioli

2015

Ittiosi, disabilità intellettiva, riarrangiamenti genomici

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaIttiosi disabilità intellettiva riarrangiamenti genomici
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TUBEROUS SCLEROSIS COMPLEX IN A PATIENT CARRYING AN ATYPICAL GENOMIC REARRANGEMENT

2015

TUBEROUS SCLEROSIS, GENOMIC REARRANGEMENT

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaTUBEROUS SCLEROSIS GENOMIC REARRANGEMENT
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Diagnosi precoce di disabilità intellettiva sindromica

2015

delezione 17p11.2, Sindrome di Smith-Magenis, anomalie congenite multiple

Settore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica Medicadelezione 17p11.2 Sindrome di Smith-Magenis anomalie congenite multiple
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Genetica e infezioni neonatali

2009

Settore MED/38 - Pediatria Generale E Specialisticagenetica infezioni neonatali.
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I gemelli: eterogeneità clinica e approccio multidisciplinare [Twins: Clinical heterogeneity and multidisciplinary approach]

2008

The incidence of multiple pregnancy has increased during the last 15 years, particularly in relation to the advances in assisted reproductive technologies. Twins are conceived in about 1 in 80 pregnancies. Multiple gestations are high risk pregnancies, which may be complicated by pre-eclampsia, anemia, postpartum hemorrhage, pre-maturity, intrauterine growth restriction (IUGR), small for gestational age (SGA) newborn, neonatal morbidity and high perinatal, neonatal and infant mortality. Main complication is the twin-to-twin transfusion syndrome (TTTS) in monochorionic twin gestations; it is associated to high perinatal mortality and increased neurological, cardiovascular and renal dysfuncti…

Settore MED/38 - Pediatria Generale E SpecialisticageneticaGemelli
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Approccio al neonato con sindrome malformativa: ABC di genetica clinica

2008

Settore MED/38 - Pediatria Generale E Specialisticaneonato genetica malformazione
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Genetica e laboratorio di medicina legale

2011

Settore MED/43 - Medicina LegaleDNA genetica forense
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