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Giulietta Scuvera

Showing results (21-30 of 35) with videos related to

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Genes|April 30, 2021
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New CasesPierpaola Tannorella, Daniele Minervino, Sara Guzzetti, et al.
Cancers|November 27, 2019
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent CohortGiulia Melloni, Marica Eoli, Claudia Cesaretti, et al.
Skeletal Muscle|September 29, 2022
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature reviewFrancesca Magri, Sara Antognozzi, Michela Ripolone, et al.
Genes & Genomics|December 1, 2022
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiologyGiada Moresco, Ornella Rondinone, Alessia Mauri, et al.
Genes|January 28, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 22, 2014
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of BergamoIrene Catucci, Paolo Peterlongo, Sara Ciceri, et al.
Carcinogenesis|January 15, 2015
Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancerMaria Kabisch, Justo Lorenzo Bermejo, Thomas Dünnebier, et al.
Plos One|April 2, 2015
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriersIgnacio Blanco, Karoline Kuchenbaecker, Daniel Cuadras, et al.
Breast Cancer Research : BCR|May 1, 2015
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersSophie Blein, Claire Bardel, Vincent Danjean, et al.
Breast Cancer Research : BCR|April 11, 2015
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortiaAmanda B Spurdle, Fergus J Couch, Michael T Parsons, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Genes|April 30, 2021
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New CasesPierpaola Tannorella, Daniele Minervino, Sara Guzzetti, et al.
Cancers|November 27, 2019
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent CohortGiulia Melloni, Marica Eoli, Claudia Cesaretti, et al.
Skeletal Muscle|September 29, 2022
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature reviewFrancesca Magri, Sara Antognozzi, Michela Ripolone, et al.
Genes & Genomics|December 1, 2022
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiologyGiada Moresco, Ornella Rondinone, Alessia Mauri, et al.
Genes|January 28, 2026
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?Alessia Carrer, Francesco Maria Crupano, Berardo Rinaldi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 22, 2014
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of BergamoIrene Catucci, Paolo Peterlongo, Sara Ciceri, et al.
Carcinogenesis|January 15, 2015
Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancerMaria Kabisch, Justo Lorenzo Bermejo, Thomas Dünnebier, et al.
Plos One|April 2, 2015
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriersIgnacio Blanco, Karoline Kuchenbaecker, Daniel Cuadras, et al.
Breast Cancer Research : BCR|May 1, 2015
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersSophie Blein, Claire Bardel, Vincent Danjean, et al.
Breast Cancer Research : BCR|April 11, 2015
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortiaAmanda B Spurdle, Fergus J Couch, Michael T Parsons, et al.
Pageof 4