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Phillipa J Lamont

Showing results (1-10 of 42) with videos related to

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Advances in Experimental Medicine and Biology|February 3, 2009
Thick filament diseasesAnders Oldfors, Phillipa J Lamont
Current Opinion in Neurology|September 13, 2005
Distal myopathiesFrank L Mastaglia, Phillipa J Lamont, Nigel G Laing
European Journal of Human Genetics : EJHG|February 26, 2015
Clinical utility gene card for: Nemaline myopathy - update 2015Kristen J Nowak, Mark R Davis, Carina Wallgren-Pettersson, et al.
European Journal of Human Genetics : EJHG|April 19, 2012
Clinical utility gene card for: nemaline myopathyKristen J Nowak, Mark R Davis, Carina Wallgren-Pettersson, et al.
Molecular Diagnosis & Therapy|September 30, 2020
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular DisordersSarah J Beecroft, Phillipa J Lamont, Samantha Edwards, et al.
Methods and Protocols|October 26, 2021
Isolation of Live Leukocytes from Human Inflammatory MusclesJerome D Coudert, Emily McLeish, Anuradha Sooda, et al.
Neuromuscular Disorders : NMD|June 21, 2017
Cystinosis distal myopathy, novel clinical, pathological and genetic featuresMacarena Cabrera-Serrano, Reimar C Junckerstorff, Ali Alisheri, et al.
Neurology. Genetics|April 30, 2024
Two Novel Variants in <i>PI4KA</i> in a Family Presenting With Hereditary Spastic Paraparesis: A Case ReportJevin M Parmar, Elyshia L McNamara, Phillipa J Lamont, et al.
Human Mutation|April 29, 2022
Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathyDaniel E Lysko, Ana M Meireles, Chiara Folland, et al.
Human Molecular Genetics|June 28, 2025
Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathyLein N H Dofash, Chiara Folland, Jason Dyke, et al.
Pageof 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
Advances in Experimental Medicine and Biology|February 3, 2009
Thick filament diseasesAnders Oldfors, Phillipa J Lamont
Current Opinion in Neurology|September 13, 2005
Distal myopathiesFrank L Mastaglia, Phillipa J Lamont, Nigel G Laing
European Journal of Human Genetics : EJHG|February 26, 2015
Clinical utility gene card for: Nemaline myopathy - update 2015Kristen J Nowak, Mark R Davis, Carina Wallgren-Pettersson, et al.
European Journal of Human Genetics : EJHG|April 19, 2012
Clinical utility gene card for: nemaline myopathyKristen J Nowak, Mark R Davis, Carina Wallgren-Pettersson, et al.
Molecular Diagnosis & Therapy|September 30, 2020
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular DisordersSarah J Beecroft, Phillipa J Lamont, Samantha Edwards, et al.
Methods and Protocols|October 26, 2021
Isolation of Live Leukocytes from Human Inflammatory MusclesJerome D Coudert, Emily McLeish, Anuradha Sooda, et al.
Neuromuscular Disorders : NMD|June 21, 2017
Cystinosis distal myopathy, novel clinical, pathological and genetic featuresMacarena Cabrera-Serrano, Reimar C Junckerstorff, Ali Alisheri, et al.
Neurology. Genetics|April 30, 2024
Two Novel Variants in <i>PI4KA</i> in a Family Presenting With Hereditary Spastic Paraparesis: A Case ReportJevin M Parmar, Elyshia L McNamara, Phillipa J Lamont, et al.
Human Mutation|April 29, 2022
Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathyDaniel E Lysko, Ana M Meireles, Chiara Folland, et al.
Human Molecular Genetics|June 28, 2025
Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathyLein N H Dofash, Chiara Folland, Jason Dyke, et al.
Pageof 5