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Marzia Pollazzon

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Brain & Development|May 12, 2009
Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a familyCarmen Gaudiano, Alessandro Malandrini, Marzia Pollazzon, et al.
Experimental Eye Research|June 13, 2022
Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night BlindnessAlessandra Mihalich, Gabriella Cammarata, Gemma Tremolada, et al.
Genes|April 23, 2022
MCPH1: A Novel Case Report and a Review of the LiteratureStefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, et al.
Molecular Syndromology|December 7, 2023
Expanding Phenotype of <i>SYT1</i>-Related Neurodevelopmental Disorder: Case Report and Literature ReviewCarlo Alberto Cesaroni, Carlotta Spagnoli, Margherita Baga, et al.
Human Molecular Genetics|November 1, 2016
Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiencyIlaria Ferrari, Justine Bouilly, Isabelle Beau, et al.
European Journal of Pediatrics|August 27, 2016
Natural history and life-threatening complications in Myhre syndrome and review of the literatureLivia Garavelli, Ilenia Maini, Federica Baccilieri, et al.
Journal of Neuromuscular Diseases|December 25, 2023
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'Ivana Frongia, Carlotta Spagnoli, Susanna Rizzi, et al.
American Journal of Medical Genetics. Part A|June 10, 2016
RIN2 syndrome: Expanding the clinical phenotypeSimonetta Rosato, Delfien Syx, Ivan Ivanovski, et al.
Clinical Dysmorphology|March 2, 2018
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?Marzia Pollazzon, Simonetta Rosato, Ivan Ivanovski, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|December 16, 2024
A Novel Variant in the <i>SUOX</i> Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase DeficiencySusanna Rizzi, Carlo Alberto Cesaroni, Carlotta Spagnoli, et al.
Pageof 5

Showing results (1-10 of 45) with videos related to

Sort By:
Pageof 5
Brain & Development|May 12, 2009
Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a familyCarmen Gaudiano, Alessandro Malandrini, Marzia Pollazzon, et al.
Experimental Eye Research|June 13, 2022
Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night BlindnessAlessandra Mihalich, Gabriella Cammarata, Gemma Tremolada, et al.
Genes|April 23, 2022
MCPH1: A Novel Case Report and a Review of the LiteratureStefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, et al.
Molecular Syndromology|December 7, 2023
Expanding Phenotype of <i>SYT1</i>-Related Neurodevelopmental Disorder: Case Report and Literature ReviewCarlo Alberto Cesaroni, Carlotta Spagnoli, Margherita Baga, et al.
Human Molecular Genetics|November 1, 2016
Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiencyIlaria Ferrari, Justine Bouilly, Isabelle Beau, et al.
European Journal of Pediatrics|August 27, 2016
Natural history and life-threatening complications in Myhre syndrome and review of the literatureLivia Garavelli, Ilenia Maini, Federica Baccilieri, et al.
Journal of Neuromuscular Diseases|December 25, 2023
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'Ivana Frongia, Carlotta Spagnoli, Susanna Rizzi, et al.
American Journal of Medical Genetics. Part A|June 10, 2016
RIN2 syndrome: Expanding the clinical phenotypeSimonetta Rosato, Delfien Syx, Ivan Ivanovski, et al.
Clinical Dysmorphology|March 2, 2018
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?Marzia Pollazzon, Simonetta Rosato, Ivan Ivanovski, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|December 16, 2024
A Novel Variant in the <i>SUOX</i> Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase DeficiencySusanna Rizzi, Carlo Alberto Cesaroni, Carlotta Spagnoli, et al.
Pageof 5