about
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutationsTherapeutic approach to bronchiolitis: why pediatricians continue to overprescribe drugs?Unbalanced translocation (3;5)(q26.1;p14): a clinical report.Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.Prenatal diagnosis of Fraser syndrome: a matter of life or death?Appropriateness of hospitalization for CAP-affected pediatric patients: report from a Southern Italy General Hospital.Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective.Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.Case of Myhre syndrome with autism and peculiar skin histological findings.Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.Pseudo Prune Belly syndrome: a case report with unilateral abdominal defect.Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangementHolt-Oram syndrome associated with anomalies of the feetA new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)
P50
Q28140706-ADEC7605-2587-41A2-97D8-F640AA2FB90BQ34221130-1C1BC294-1B9F-4998-B916-50B30814A126Q34737314-214E4A10-BC5F-45E2-9493-FAF55F2445D7Q35848179-8BFE3CD3-E45A-4B7A-991C-407529F7C2D3Q36267067-05990CE5-E48E-4566-95E8-4275A1B54DBDQ37365795-44CAAA05-3A21-4EFC-98D8-4CF7B1FB85BEQ41159363-C14358FB-50A6-4B76-B457-549BDDEB5E3BQ41938798-630D7904-EF62-4847-94F8-45692FF0CE24Q46110405-99E80157-7DE9-4D20-A88E-A482F061B365Q47210500-71077542-3FCB-4C0E-864A-4319C2BDEBEEQ50310685-9E4B58C8-BF4B-472E-89E4-04598DD52A59Q52126510-5541187B-B28E-4505-BA99-F2F72F588ADAQ54494715-9862C293-AD11-45B3-B9FC-6C29DC5A3589Q55689447-B769C762-BA40-4C37-91A2-424B527063C5Q64890014-5B00596C-C250-4593-8348-37272BBC0CD1Q74236666-D6E220F0-C65B-4DC9-8289-AF5F3A522F92Q80900694-08FF3BCC-A330-40D5-BD66-6F004498A688Q81152892-198C705C-FFA9-4B33-B3B8-70F6A7EBE017
P50
description
researcher
@en
wetenschapper
@nl
name
D De Brasi
@en
D De Brasi
@nl
type
label
D De Brasi
@en
D De Brasi
@nl
prefLabel
D De Brasi
@en
D De Brasi
@nl
P106
P31
P496
0000-0002-9111-2985