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Daniela Orteschi

Showing results (41-50 of 48) with videos related to

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Genes|March 28, 2024
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the LiteratureValentina Trevisan, Anna Meroni, Chiara Leoni, et al.
American Journal of Hematology|September 2, 2022
A common pattern of somatic mutations in t-MDS/AML of patients treated with PARP inhibitors for metastatic ovarian cancerPatrizia Chiusolo, Claudia Marchetti, Monica Rossi, et al.
European Journal of Human Genetics : EJHG|August 16, 2012
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi Boccuto, Maria Lauri, Sara M Sarasua, et al.
Genes|April 26, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in <i>PTEN</i> and <i>PPP2R5D</i> Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic StrategyFederica Francesca L'Erario, Annalisa Gazzellone, Ilaria Contaldo, et al.
Human Genetics|August 7, 2007
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16Marcella Zollino, Rosetta Lecce, Marina Murdolo, et al.
Human Molecular Genetics|July 25, 2009
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosisMario Sabatelli, Fabrizio Eusebi, Ammar Al-Chalabi, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteriaGiuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, et al.
Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
Pageof 5

Showing results (41-50 of 48) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 48 results.
Genes|March 28, 2024
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the LiteratureValentina Trevisan, Anna Meroni, Chiara Leoni, et al.
American Journal of Hematology|September 2, 2022
A common pattern of somatic mutations in t-MDS/AML of patients treated with PARP inhibitors for metastatic ovarian cancerPatrizia Chiusolo, Claudia Marchetti, Monica Rossi, et al.
European Journal of Human Genetics : EJHG|August 16, 2012
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi Boccuto, Maria Lauri, Sara M Sarasua, et al.
Genes|April 26, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in <i>PTEN</i> and <i>PPP2R5D</i> Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic StrategyFederica Francesca L'Erario, Annalisa Gazzellone, Ilaria Contaldo, et al.
Human Genetics|August 7, 2007
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16Marcella Zollino, Rosetta Lecce, Marina Murdolo, et al.
Human Molecular Genetics|July 25, 2009
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosisMario Sabatelli, Fabrizio Eusebi, Ammar Al-Chalabi, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteriaGiuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, et al.
Journal of Medical Genetics|October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patientsMarcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
Pageof 5