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Alessandro De Luca

Showing results (171-180 of 192) with videos related to

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European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
Clinical Genetics|May 14, 2021
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defectsValentina Guida, Francesca Piceci Sparascio, Laura Bernardini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohortAlexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndromeAndrea Gazzin, Marta Calvo, Federico Rondot, et al.
Breast (Edinburgh, Scotland)|November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancerNiccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
JAMA|June 5, 2007
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancerPardeep Kaurah, Andrée MacMillan, Niki Boyd, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
American Journal of Human Genetics|August 13, 2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesRichard J Holt, Rodrigo M Young, Berta Crespo, et al.
Pageof 20

Showing results (171-180 of 192) with videos related to

Sort By:
Pageof 20
European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
Clinical Genetics|May 14, 2021
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defectsValentina Guida, Francesca Piceci Sparascio, Laura Bernardini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohortAlexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndromeAndrea Gazzin, Marta Calvo, Federico Rondot, et al.
Breast (Edinburgh, Scotland)|November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancerNiccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
American Journal of Human Genetics|October 9, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMarialetizia Motta, Giulia Fasano, Sina Gredy, et al.
JAMA|June 5, 2007
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancerPardeep Kaurah, Andrée MacMillan, Niki Boyd, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
American Journal of Human Genetics|August 13, 2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesRichard J Holt, Rodrigo M Young, Berta Crespo, et al.
Pageof 20