Laura Dosa

Florence, Italy

Last Updated: 09/26/2026

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Found 10 publications

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: January 30, 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Journal: Human mutation

Published: May 31, 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 03, 2018

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 29, 2018

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome.

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome.

Journal: International journal of endocrinology

Published: January 17, 2016

Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis.

Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis.

Journal: Fertility and sterility

Published: September 09, 2015

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

Journal: Brain & development

Published: July 17, 2014

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

Journal: European journal of human genetics : EJHG

Published: March 26, 2014

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.

Journal: Gene

Published: April 02, 2012

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Journal: European journal of medical genetics

Published: September 28, 2011

Showing 1-10 of 10

Last Updated: 09/26/2026