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Marzia Pollazzon

Showing results (21-30 of 45) with videos related to

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American Journal of Medical Genetics. Part A|April 23, 2018
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypesIvan Ivanovski, Susan Akbaroghli, Marzia Pollazzon, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disabilityMaria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patientsEleni Katzaki, Gilles Morin, Marzia Pollazzon, et al.
European Journal of Medical Genetics|March 12, 2010
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone ageVera Uliana, Salvatore Grosso, Maddalena Cioni, et al.
Genes|October 17, 2019
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, et al.
American Journal of Human Genetics|June 24, 2008
FOXG1 is responsible for the congenital variant of Rett syndromeFrancesca Ariani, Giuseppe Hayek, Dalila Rondinella, et al.
Journal of Human Genetics|May 20, 2011
Investigation of modifier genes within copy number variations in Rett syndromeRosangela Artuso, Filomena T Papa, Elisa Grillo, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Frontiers in Neurology|July 31, 2023
Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizuresCarlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, et al.
European Journal of Medical Genetics|July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practiceMaria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

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Pageof 5
American Journal of Medical Genetics. Part A|April 23, 2018
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypesIvan Ivanovski, Susan Akbaroghli, Marzia Pollazzon, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disabilityMaria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patientsEleni Katzaki, Gilles Morin, Marzia Pollazzon, et al.
European Journal of Medical Genetics|March 12, 2010
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone ageVera Uliana, Salvatore Grosso, Maddalena Cioni, et al.
Genes|October 17, 2019
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, et al.
American Journal of Human Genetics|June 24, 2008
FOXG1 is responsible for the congenital variant of Rett syndromeFrancesca Ariani, Giuseppe Hayek, Dalila Rondinella, et al.
Journal of Human Genetics|May 20, 2011
Investigation of modifier genes within copy number variations in Rett syndromeRosangela Artuso, Filomena T Papa, Elisa Grillo, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Frontiers in Neurology|July 31, 2023
Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizuresCarlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, et al.
European Journal of Medical Genetics|July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practiceMaria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.
Pageof 5