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Mark R Davis

Showing results (31-40 of 55) with videos related to

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American Journal of Human Genetics|November 27, 2010
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with coresNyamkhishig Sambuughin, Kyle S Yau, Montse Olivé, et al.
American Journal of Human Genetics|August 6, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemiaPauline Gaignard, Minal Menezes, Manuel Schiff, et al.
Clinical Genetics|April 29, 2024
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelinesEmiliano Giardina, Pilar Camaño, Sarah Burton-Jones, et al.
Neuromuscular Disorders : NMD|June 18, 2016
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathiesRenata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, et al.
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|November 27, 2010
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with coresNyamkhishig Sambuughin, Kyle S Yau, Montse Olivé, et al.
American Journal of Human Genetics|August 6, 2013
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemiaPauline Gaignard, Minal Menezes, Manuel Schiff, et al.
Clinical Genetics|April 29, 2024
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelinesEmiliano Giardina, Pilar Camaño, Sarah Burton-Jones, et al.
Neuromuscular Disorders : NMD|June 18, 2016
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathiesRenata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, et al.
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
Pageof 6