Lista de obras - Flavia Palombo - Dominio Público Uruguay

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

artículo científico publicado en 2016

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

artículo científico publicado en 2013

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

scientific article published on 21 January 2021

Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population

artículo científico publicado en 2021

Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

scientific article published on 17 August 2018

Characterization and identification of hidden rare variants in the human genome.

artículo científico publicado en 2015

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

artículo científico publicado en 2016

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

artículo científico publicado en 2015

First missense mutation in an Italian proband with optic atrophy and deafness

article

H3M2: detection of runs of homozygosity from whole-exome sequencing data

artículo científico publicado en 2014

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

artículo científico publicado en 2015

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

scientific article published on 05 September 2019

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

scientific article published on 27 December 2018

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

artículo científico publicado en 2015

Mutations of RUNX1 in families with inherited thrombocytopenia.

artículo científico publicado en 2017

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

artículo científico publicado en 2016

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

scientific journal article

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

artículo científico publicado en 2020

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

artículo científico publicado en 2018

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

artículo científico publicado en 2021

Lista de obras de Flavia Palombo

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population

Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Characterization and identification of hidden rare variants in the human genome.

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

First missense mutation in an Italian proband with optic atrophy and deafness

H3M2: detection of runs of homozygosity from whole-exome sequencing data

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

Mutations of RUNX1 in families with inherited thrombocytopenia.

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs