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List of works by Fabrizio Dutly

A 5-year-old girl with interstitial deletion of 3p14: Clinical, psychologic, cytogenetic, and molecular studies ⬇️

scientific article published on May 26, 1998

A Swiss (εγδβ)0‐thalassemia patient with a novel 3‐Mb deletion associated with mild mental impairment ⬇️

scientific article published on December 17, 2012

A new electrophoretically silent beta-globin variant in a Portuguese family: Hb Viseu [beta57(E1)Asn --> Thr]

scientific article published on 01 January 2006

Characterization of three novel delta chain hemoglobin variants and two delta-thalassemia alleles

scientific article published on 01 January 2010

Comparison of two known chromosomal rearrangements in the δβ-globin complex with identical DNA breakpoints but causing different Hb A(2) levels

scientific article published on 24 January 2012

Compound heterozygosity for Hb S [beta6(A3)GluVal, GAG-->GTG] and a new thalassemic mutation [beta132(H10)Lys-->term, AAA-->TAA] detected in a family from West Africa

scientific article published on 01 January 2008

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

scientific article published on 01 March 1998

Molecular characterization of Treponema pallidum subsp. pallidum in Switzerland and France with a new multilocus sequence typing scheme

scientific article published in PLoS ONE

Neonatal cyanosis due to a new (G)γ-globin variant causing low oxygen affinity: Hb F-Sarajevo [(G)γ102(G4)Asn→Thr, AAC>ACC]

scientific article published on 02 March 2012

PCR-positive tests for Tropheryma whippelii in patients without Whipple's disease

scientific article published on 01 June 1999

Rapid detection of Mycoplasma pneumoniae in clinical samples by real-time PCR

scientific article published on 01 June 2000

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

scientific article published on 01 October 1998

Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene

scientific article published on 01 January 2005

alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T).

scientific article

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