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Davide Mei

Showing results (91-100 of 110) with videos related to

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Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, 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.
Epilepsia|November 20, 2018
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter studyMarina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with <i>COL4A1</i>/<i>2</i> mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Pageof 11

Showing results (91-100 of 110) with videos related to

Sort By:
Pageof 11
Neurology|December 14, 2018
<i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, 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.
Epilepsia|November 20, 2018
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter studyMarina Trivisano, Nicola Pietrafusa, Alessandra Terracciano, et al.
American Journal of Human Genetics|July 8, 2023
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegenerationAnnalisa Vetro, Cristiana Pelorosso, Simona Balestrini, et al.
Neurology|August 14, 2016
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathiesKatrine Johannesen, Carla Marini, Siona Pfeffer, et al.
Brain : a Journal of Neurology|June 8, 2022
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasisRenzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, et al.
Neurology|November 11, 2018
Neurologic phenotypes associated with <i>COL4A1</i>/<i>2</i> mutations: Expanding the spectrum of diseaseSara Zagaglia, Christina Selch, Jelena Radic Nisevic, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Pageof 11