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Lista de obras de Daniele De Brasi

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)

scientific article published on 01 January 2005

Appropriateness of hospitalization for CAP-affected pediatric patients: report from a Southern Italy General Hospital.

artículo científico publicado en 2009

Case of Myhre syndrome with autism and peculiar skin histological findings.

artículo científico publicado en 2001

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

artículo científico publicado en 2013

Holt-Oram syndrome associated with anomalies of the feet

artículo científico publicado en 2008

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

artículo científico publicado en 2001

Mental retardation, tall stature and minor phenotypic abnormalities associated with a de novo complex chromosome rearrangement

scientific article published on 01 June 2000

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

artículo científico publicado en 2009

Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective

artículo científico publicado en 2015

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

artículo científico publicado en 2018

Prenatal diagnosis of Fraser syndrome: a matter of life or death?

artículo científico publicado en 2015

Pseudo Prune Belly syndrome: a case report with unilateral abdominal defect.

artículo científico publicado en 2019

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation

artículo científico publicado en 2015

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations

artículo científico publicado en 1999

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

artículo científico publicado en 2008

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

artículo científico publicado en 2008

Therapeutic approach to bronchiolitis: why pediatricians continue to overprescribe drugs?

artículo científico publicado el 1 de octubre de 2010

Unbalanced translocation (3;5)(q26.1;p14): a clinical report.

artículo científico publicado en 2002