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INFLUENCE OF SMOKING-HABITS ON DOWNS-SYNDROME RISK-EVALUATION AT MIDTRIMESTER THROUGH BIOCHEMICAL SCREENING
International journal of clinical & laboratory research
GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS
Human mutation
REPEAT TESTING OF MOTHERS WITH HIGH HUMAN CHORIONIC-GONADOTROPIN LEVELS IN DOWNS-SYNDROME SCREENING
International journal of clinical & laboratory research
DO RP FILTERS IMPROVE RETINITIS-PIGMENTOSA PATIENT
Investigative ophthalmology & visual science
GENETIC HISTORY OF CYSTIC-FIBROSIS MUTATIONS IN ITALY - I - REGIONAL DISTRIBUTION
Annals of Human Genetics
SPINOCEREBELLAR ATAXIAS ANALYSIS OF CAG EXPANSIONS AT SCA1, SCA2, SCA3 AND SCA6 LOCI IN ITALIAN FAMILIES
American journal of human genetics
PATTERN DYSTROPHIES OF THE RETINAL-PIGMENT EPITHELIUM
Acta ophthalmologica Scandinavica
PRENATAL-DIAGNOSIS OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A
Neuromuscular disorders
DETECTION OF 2 DIFFERENT NONSENSE MUTATIONS IN EXON-44 OF THE PKD1 GENE IN 2 UNRELATED ITALIAN FAMILIES WITH SEVERE AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Nephrology, dialysis, transplantation
AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN AN ITALIAN FAMILY CARRYING A NOVEL NONSENSE MUTATION AND 2 MISSENSE CHANGES IN EXON-44 AND EXON-45 OF THE PKD1 GENE
American journal of medical genetics
CARRIER DETECTION OF DUCHENNE MUSCULAR-DYSTROPHY THROUGH ANALYSIS OF DNA FROM DECIDUOUS TEETH OF A DEAD AFFECTED CHILD
Prenatal diagnosis
NOVEL NONSENSE MUTATIONS IN THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD)
American journal of human genetics
VALIDATION OF IGA1 AND IGA2 MEASUREMENTS BY A SOLID-PHASE IMMUNORADIOMETRIC ASSAY IN SERUM AND SECRETIONS
International journal of clinical & laboratory research
MATERNAL SERUM MARKERS - ESTIMATION OF THE RISK OF DOWNS-SYNDROME - APROSPECTIVE-STUDY
International journal of clinical & laboratory research