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Maria Iascone

Showing results (141-150 of 178) with videos related to

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European Journal of Human Genetics : EJHG|May 31, 2025
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patientsMarco Fabiani, Caterina Micolonghi, Silvia Caroselli, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
Brain : a Journal of Neurology|July 24, 2019
Cohesin complex-associated holoprosencephalyPaul Kruszka, Seth I Berger, Valentina Casa, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|October 24, 2021
Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working groupGiusy Ranucci, Claudia Della Corte, Daniele Alberti, et al.
Science Advances|July 10, 2024
Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter releaseSimon Früh, Sami Boudkkazi, Peter Koppensteiner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
Pageof 18

Showing results (141-150 of 178) with videos related to

Sort By:
Pageof 18
European Journal of Human Genetics : EJHG|May 31, 2025
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patientsMarco Fabiani, Caterina Micolonghi, Silvia Caroselli, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
Brain : a Journal of Neurology|July 24, 2019
Cohesin complex-associated holoprosencephalyPaul Kruszka, Seth I Berger, Valentina Casa, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|October 24, 2021
Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working groupGiusy Ranucci, Claudia Della Corte, Daniele Alberti, et al.
Science Advances|July 10, 2024
Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter releaseSimon Früh, Sami Boudkkazi, Peter Koppensteiner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
Pageof 18