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Reza Maroofian

Showing results (81-90 of 276) with videos related to

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Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.
HGG Advances|April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromesJulie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, et al.
Brain : a Journal of Neurology|June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathwayYoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Clinical Genetics|February 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorderMohammed Almannai, Dana Marafi, Maha S Zaki, et al.
Autophagy|September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patientsCeline Deneubourg, Hormos Salimi Dafsari, Simon Lowe, et al.
HGG Advances|September 11, 2024
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locusReza Maroofian, Alistair T Pagnamenta, Alireza Navabazam, et al.
Nature Communications|August 8, 2018
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defectsJohanne Dubail, Céline Huber, Sandrine Chantepie, et al.
Pageof 28

Showing results (81-90 of 276) with videos related to

Sort By:
Pageof 28
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.
HGG Advances|April 1, 2021
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromesJulie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, et al.
Brain : a Journal of Neurology|June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathwayYoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Clinical Genetics|February 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorderMohammed Almannai, Dana Marafi, Maha S Zaki, et al.
Autophagy|September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patientsCeline Deneubourg, Hormos Salimi Dafsari, Simon Lowe, et al.
HGG Advances|September 11, 2024
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locusReza Maroofian, Alistair T Pagnamenta, Alireza Navabazam, et al.
Nature Communications|August 8, 2018
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defectsJohanne Dubail, Céline Huber, Sandrine Chantepie, et al.
Pageof 28