Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Maria Paola Lombardi

Showing results (1-10 of 8) with videos related to

Pageof 1
Sort By:
American Journal of Medical Genetics. Part A|December 21, 2013
Focal dermal hypoplasia without focal dermal hypoplasiaSilvina N Contreras-Capetillo, Maria Paola Lombardi, Doris Pinto-Escalante, et al.
Acta Dermato-Venereologica|March 16, 2017
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female PatientsMaella Severino-Freire, Aude Maza, Maria Paola Lombardi, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literatureRobert Smigiel, Aleksandra Jakubiak, Maria Paola Lombardi, et al.
American Journal of Medical Genetics. Part A|September 14, 2016
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literatureLaura Mary, Sophie Scheidecker, Monique Kohler, et al.
Genetics Research|March 5, 2019
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromesDeborah J G Mackay, Jet Bliek, Maria Paola Lombardi, et al.
Circulation|August 22, 2013
Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experienceNynke Hofman, Hanno L Tan, Mariëlle Alders, et al.
Human Mutation|April 8, 2011
Mutation update for the PORCN geneMaria Paola Lombardi, Saskia Bulk, Jacopo Celli, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 1, 2022
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic CharacterizationJanna A Hol, Roland P Kuiper, Freerk van Dijk, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
American Journal of Medical Genetics. Part A|December 21, 2013
Focal dermal hypoplasia without focal dermal hypoplasiaSilvina N Contreras-Capetillo, Maria Paola Lombardi, Doris Pinto-Escalante, et al.
Acta Dermato-Venereologica|March 16, 2017
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female PatientsMaella Severino-Freire, Aude Maza, Maria Paola Lombardi, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literatureRobert Smigiel, Aleksandra Jakubiak, Maria Paola Lombardi, et al.
American Journal of Medical Genetics. Part A|September 14, 2016
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literatureLaura Mary, Sophie Scheidecker, Monique Kohler, et al.
Genetics Research|March 5, 2019
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromesDeborah J G Mackay, Jet Bliek, Maria Paola Lombardi, et al.
Circulation|August 22, 2013
Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experienceNynke Hofman, Hanno L Tan, Mariëlle Alders, et al.
Human Mutation|April 8, 2011
Mutation update for the PORCN geneMaria Paola Lombardi, Saskia Bulk, Jacopo Celli, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 1, 2022
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic CharacterizationJanna A Hol, Roland P Kuiper, Freerk van Dijk, et al.
Pageof 1