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Ivan Limongelli

Showing results (11-20 of 24) with videos related to

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European Journal of Medical Genetics|September 4, 2013
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 geneBaran Bayindir, Elena Piazza, Erika Della Mina, et al.
American Journal of Medical Genetics. Part A|February 24, 2015
A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular eventsAlice Decio, Davide Tonduti, Anna Pichiecchio, et al.
Gene|September 23, 2024
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performanceFederica Baldan, Eliana Demori, Chiara Gnan, et al.
European Journal of Human Genetics : EJHG|February 16, 2017
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndromeAnnalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, et al.
European Journal of Human Genetics : EJHG|January 8, 2015
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureMaria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, et al.
European Journal of Human Genetics : EJHG|May 23, 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platformErika Della Mina, Roberto Ciccone, Francesca Brustia, et al.
The Canadian Journal of Cardiology|November 28, 2023
Cardiovascular Disease Burden, Mortality, and Sudden Death Risk in Epilepsy: A UK Biobank StudyRavi A Shah, C Anwar A Chahal, Shaheryar Ranjha, et al.
Human Mutation|March 11, 2015
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL AssociationAnnalisa Vetro, Maria Iascone, Ivan Limongelli, et al.
Neurology|May 9, 2014
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutationAlessio Di Fonzo, Dario Ronchi, Francesca Gallia, et al.
Blood|March 13, 2013
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1Immacolata Andolfo, Seth L Alper, Lucia De Franceschi, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
European Journal of Medical Genetics|September 4, 2013
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 geneBaran Bayindir, Elena Piazza, Erika Della Mina, et al.
American Journal of Medical Genetics. Part A|February 24, 2015
A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular eventsAlice Decio, Davide Tonduti, Anna Pichiecchio, et al.
Gene|September 23, 2024
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performanceFederica Baldan, Eliana Demori, Chiara Gnan, et al.
European Journal of Human Genetics : EJHG|February 16, 2017
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndromeAnnalisa Vetro, Salvatore Savasta, Annalisa Russo Raucci, et al.
European Journal of Human Genetics : EJHG|January 8, 2015
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureMaria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, et al.
European Journal of Human Genetics : EJHG|May 23, 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platformErika Della Mina, Roberto Ciccone, Francesca Brustia, et al.
The Canadian Journal of Cardiology|November 28, 2023
Cardiovascular Disease Burden, Mortality, and Sudden Death Risk in Epilepsy: A UK Biobank StudyRavi A Shah, C Anwar A Chahal, Shaheryar Ranjha, et al.
Human Mutation|March 11, 2015
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL AssociationAnnalisa Vetro, Maria Iascone, Ivan Limongelli, et al.
Neurology|May 9, 2014
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutationAlessio Di Fonzo, Dario Ronchi, Francesca Gallia, et al.
Blood|March 13, 2013
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1Immacolata Andolfo, Seth L Alper, Lucia De Franceschi, et al.
Pageof 3