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Phillipa Lamont

Showing results (1-10 of 13) with videos related to

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Journal of Neuromuscular Diseases|June 27, 2022
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst PregnantCatherine Ashton, Mark Davis, Merrilee Needham, et al.
Handbook of Clinical Neurology|September 24, 2008
Congenital myopathiesNigel G Laing, Caroline A Sewry, Phillipa Lamont
European Journal of Human Genetics : EJHG|December 15, 2010
Clinical utility gene card for: Laing distal myopathyPhillipa Lamont, William Wallefeld, Mark Davis, et al.
Seminars in Cell & Developmental Biology|August 14, 2016
New era in genetics of early-onset muscle disease: Breakthroughs and challengesGianina Ravenscroft, Mark R Davis, Phillipa Lamont, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 17, 2013
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patientsVinutha B Shetty, Cathy Kiraly-Borri, Phillipa Lamont, et al.
Muscle & Nerve|September 5, 2014
Novel CHKB mutation expands the megaconial muscular dystrophy phenotypeMacarena Cabrera-Serrano, Reimar C Junckerstorff, Vanessa Atkinson, et al.
Annals of Clinical and Translational Neurology|May 3, 2024
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulationWai Yan Yau, Catherine Ashton, Eoin Mulroy, et al.
Genome Biology|August 22, 2018
STRetch: detecting and discovering pathogenic short tandem repeat expansionsHarriet Dashnow, Monkol Lek, Belinda Phipson, et al.
The Lancet Regional Health. Western Pacific|November 19, 2024
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based studyLakshmi Balaji, Robin Forbes, Anita Cairns, et al.
Genome Biology|December 14, 2022
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel lociHarriet Dashnow, Brent S Pedersen, Laurel Hiatt, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Journal of Neuromuscular Diseases|June 27, 2022
Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst PregnantCatherine Ashton, Mark Davis, Merrilee Needham, et al.
Handbook of Clinical Neurology|September 24, 2008
Congenital myopathiesNigel G Laing, Caroline A Sewry, Phillipa Lamont
European Journal of Human Genetics : EJHG|December 15, 2010
Clinical utility gene card for: Laing distal myopathyPhillipa Lamont, William Wallefeld, Mark Davis, et al.
Seminars in Cell & Developmental Biology|August 14, 2016
New era in genetics of early-onset muscle disease: Breakthroughs and challengesGianina Ravenscroft, Mark R Davis, Phillipa Lamont, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 17, 2013
NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patientsVinutha B Shetty, Cathy Kiraly-Borri, Phillipa Lamont, et al.
Muscle & Nerve|September 5, 2014
Novel CHKB mutation expands the megaconial muscular dystrophy phenotypeMacarena Cabrera-Serrano, Reimar C Junckerstorff, Vanessa Atkinson, et al.
Annals of Clinical and Translational Neurology|May 3, 2024
POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulationWai Yan Yau, Catherine Ashton, Eoin Mulroy, et al.
Genome Biology|August 22, 2018
STRetch: detecting and discovering pathogenic short tandem repeat expansionsHarriet Dashnow, Monkol Lek, Belinda Phipson, et al.
The Lancet Regional Health. Western Pacific|November 19, 2024
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based studyLakshmi Balaji, Robin Forbes, Anita Cairns, et al.
Genome Biology|December 14, 2022
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel lociHarriet Dashnow, Brent S Pedersen, Laurel Hiatt, et al.
Pageof 2