about
VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic.Holoprosencephaly: report of four cases and genotype-phenotype correlations.Constitutional bone impairment in Noonan syndrome.Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann SyndromeThe effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrumPhenotype evolution and health issues of adults with Beckwith-Wiedemann syndromeSyndromic Disorders Caused by Disturbed Human Imprinting
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Diana Carli
@ast
Diana Carli
@en
Diana Carli
@es
Diana Carli
@nl
Diana Carli
@sl
type
label
Diana Carli
@ast
Diana Carli
@en
Diana Carli
@es
Diana Carli
@nl
Diana Carli
@sl
prefLabel
Diana Carli
@ast
Diana Carli
@en
Diana Carli
@es
Diana Carli
@nl
Diana Carli
@sl
P106
P21
P31
P496
0000-0001-5690-6504