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Ilaria Longo

Showing results (31-40 of 39) with videos related to

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Cancer Science|February 3, 2009
Array comparative genomic hybridization in retinoma and retinoblastoma tissuesKatia Sampieri, Mariangela Amenduni, Filomena Tiziana Papa, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 9, 2009
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcomeElena Marcocci, Vera Uliana, Mirella Bruttini, et al.
Medicine|June 7, 2003
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illnessMarco Seri, Alessandro Pecci, Filomena Di Bari, et al.
European Journal of Human Genetics : EJHG|May 13, 2010
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndromeVeronica Parri, Eleni Katzaki, Vera Uliana, et al.
Molecular Genetics & Genomic Medicine|December 19, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rateIlaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, et al.
Prenatal Diagnosis|November 20, 2022
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, et al.
Cell|October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2025
AUTS2-related syndrome: Insights from a large European cohortLorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Cancer Science|February 3, 2009
Array comparative genomic hybridization in retinoma and retinoblastoma tissuesKatia Sampieri, Mariangela Amenduni, Filomena Tiziana Papa, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 9, 2009
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcomeElena Marcocci, Vera Uliana, Mirella Bruttini, et al.
Medicine|June 7, 2003
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illnessMarco Seri, Alessandro Pecci, Filomena Di Bari, et al.
European Journal of Human Genetics : EJHG|May 13, 2010
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndromeVeronica Parri, Eleni Katzaki, Vera Uliana, et al.
Molecular Genetics & Genomic Medicine|December 19, 2019
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rateIlaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, et al.
Prenatal Diagnosis|November 20, 2022
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, et al.
Cell|October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Medrxiv : the Preprint Server for Health Sciences|September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disordersMatthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2025
AUTS2-related syndrome: Insights from a large European cohortLorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Pageof 4