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Lista de obras de Pietro Palumbo

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

article

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination

artículo científico publicado en 2012

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

artículo científico publicado en 2020

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

artículo científico publicado en 2014

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

scientific article published on 20 February 2019

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

artículo científico publicado en 2017

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

artículo científico publicado en 2014

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

artículo científico publicado en 2019

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

artículo científico publicado en 2014

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.

artículo científico publicado en 2015

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders

artículo científico publicado en 2017

TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

article

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