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Heather C Mefford

Showing results (91-100 of 222) with videos related to

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Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Human Mutation|September 13, 2013
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effectsDong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, et al.
Epilepsia|February 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signatureChristy W LaFlamme, Karim Karimi, Cassandra Rastin, et al.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
EMBO Molecular Medicine|November 29, 2015
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyBorislav Dejanovic, Tania Djémié, Nora Grünewald, et al.
EMBO Molecular Medicine|December 3, 2017
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyBorislav Dejanovic, Tania Djémié, Nora Grünewald, et al.
Epilepsia|November 25, 2017
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45Gemma L Carvill, Aijie Liu, Simone Mandelstam, et al.
Annals of Clinical and Translational Neurology|March 27, 2019
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsiesTommaso Pippucci, Laura Licchetta, Sara Baldassari, et al.
HGG Advances|January 20, 2022
A recurrent, <i>de novo</i> pathogenic variant in <i>ARPC4</i> disrupts actin filament formation and causes microcephaly and speech delayDianne Laboy Cintron, Alison M Muir, Abbey Scott, et al.
Neurology|April 1, 2016
A targeted resequencing gene panel for focal epilepsyMichael S Hildebrand, Candace T Myers, Gemma L Carvill, et al.
Pageof 23

Showing results (91-100 of 222) with videos related to

Sort By:
Pageof 23
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Human Mutation|September 13, 2013
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effectsDong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, et al.
Epilepsia|February 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signatureChristy W LaFlamme, Karim Karimi, Cassandra Rastin, et al.
European Journal of Medical Genetics|September 2, 2015
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similaritiesAnke Van Dijck, Ilse M van der Werf, Edwin Reyniers, et al.
EMBO Molecular Medicine|November 29, 2015
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyBorislav Dejanovic, Tania Djémié, Nora Grünewald, et al.
EMBO Molecular Medicine|December 3, 2017
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyBorislav Dejanovic, Tania Djémié, Nora Grünewald, et al.
Epilepsia|November 25, 2017
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45Gemma L Carvill, Aijie Liu, Simone Mandelstam, et al.
Annals of Clinical and Translational Neurology|March 27, 2019
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsiesTommaso Pippucci, Laura Licchetta, Sara Baldassari, et al.
HGG Advances|January 20, 2022
A recurrent, <i>de novo</i> pathogenic variant in <i>ARPC4</i> disrupts actin filament formation and causes microcephaly and speech delayDianne Laboy Cintron, Alison M Muir, Abbey Scott, et al.
Neurology|April 1, 2016
A targeted resequencing gene panel for focal epilepsyMichael S Hildebrand, Candace T Myers, Gemma L Carvill, et al.
Pageof 23