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Mark F Bennett

Showing results (41-50 of 56) with videos related to

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Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.
Brain : a Journal of Neurology|July 5, 2022
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsyLuca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, et al.
American Journal of Human Genetics|June 2, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
American Journal of Human Genetics|December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Orphanet Journal of Rare Diseases|August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is agelessMathew Wallis, Simon D Bodek, Jacob Munro, et al.
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.
American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.
Brain : a Journal of Neurology|March 19, 2020
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisCarol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Human Mutation|August 28, 2022
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reportingZimeng Ye, Sufang Lin, Xia Zhao, et al.
Brain : a Journal of Neurology|July 5, 2022
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsyLuca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, et al.
American Journal of Human Genetics|June 2, 2023
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
American Journal of Human Genetics|December 9, 2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14Haloom Rafehi, Justin Read, David J Szmulewicz, et al.
Orphanet Journal of Rare Diseases|August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is agelessMathew Wallis, Simon D Bodek, Jacob Munro, et al.
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.
American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
Brain : a Journal of Neurology|November 17, 2023
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40Angela T Morgan, Thomas S Scerri, Adam P Vogel, et al.
Brain : a Journal of Neurology|March 19, 2020
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisCarol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Pageof 6