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Tracey Willis

Showing results (11-20 of 40) with videos related to

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Clinical Genetics|February 25, 2020
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disordersJulie Vogt, Atif Al-Saedi, Tracey Willis, et al.
European Journal of Human Genetics : EJHG|September 10, 2009
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)Tod Fullston, Louise Brueton, Tracey Willis, et al.
Clinical Pharmacology in Drug Development|March 23, 2026
Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy VolunteersEugenio Mercuri, Barry Byrne, Tracey Willis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 21, 2007
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathyHenry Houlden, Mike Groves, Zosia Miedzybrodzka, et al.
BMJ Paediatrics Open|January 8, 2020
Healthcare utilisation in children with SMA type 1 treated with nusinersen: a single centre retrospective reviewImran Ali, Francis J Gilchrist, William D Carroll, et al.
Neuromuscular Disorders : NMD|October 16, 2025
279th ENMC international workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024Jildou N Dijkstra, Bettina C Henzi, Katherine D Mathews, et al.
Neuromuscular Disorders : NMD|October 2, 2023
Pancreatitis in RYR1-related disordersDennis T Famili, Arti Mistry, Oleg Gerasimenko, et al.
Journal of Medical Economics|June 1, 2022
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel studyErik Landfeldt, Rongrong Zhang, Anne-Marie Childs, et al.
Neurology|December 3, 2021
Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular DystrophyMarianela Schiava, Rachel Amos, Henriette VanRuiten, et al.
Archives of Disease in Childhood|July 10, 2021
Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophyVasantha Lakshmi Gowda, Miguel Fernandez, Manish Prasad, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
Clinical Genetics|February 25, 2020
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disordersJulie Vogt, Atif Al-Saedi, Tracey Willis, et al.
European Journal of Human Genetics : EJHG|September 10, 2009
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)Tod Fullston, Louise Brueton, Tracey Willis, et al.
Clinical Pharmacology in Drug Development|March 23, 2026
Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy VolunteersEugenio Mercuri, Barry Byrne, Tracey Willis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 21, 2007
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathyHenry Houlden, Mike Groves, Zosia Miedzybrodzka, et al.
BMJ Paediatrics Open|January 8, 2020
Healthcare utilisation in children with SMA type 1 treated with nusinersen: a single centre retrospective reviewImran Ali, Francis J Gilchrist, William D Carroll, et al.
Neuromuscular Disorders : NMD|October 16, 2025
279th ENMC international workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024Jildou N Dijkstra, Bettina C Henzi, Katherine D Mathews, et al.
Neuromuscular Disorders : NMD|October 2, 2023
Pancreatitis in RYR1-related disordersDennis T Famili, Arti Mistry, Oleg Gerasimenko, et al.
Journal of Medical Economics|June 1, 2022
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel studyErik Landfeldt, Rongrong Zhang, Anne-Marie Childs, et al.
Neurology|December 3, 2021
Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular DystrophyMarianela Schiava, Rachel Amos, Henriette VanRuiten, et al.
Archives of Disease in Childhood|July 10, 2021
Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophyVasantha Lakshmi Gowda, Miguel Fernandez, Manish Prasad, et al.
Pageof 4