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Mark R Davis

Showing results (41-50 of 55) with videos related to

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American Journal of Human Genetics|March 3, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Journal of Personalized Medicine|December 29, 2022
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and ImplementationAlison D Archibald, Belinda J McClaren, Jade Caruana, et al.
Science Translational Medicine|April 3, 2024
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle diseaseSandra Donkervoort, Martijn van de Locht, Dario Ronchi, et al.
Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathyGianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, et al.
Annals of Neurology|January 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease SpectrumSandra Coppens, Nicolas Deconinck, Patricia Sullivan, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|March 3, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, et al.
Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.
Journal of Personalized Medicine|December 29, 2022
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and ImplementationAlison D Archibald, Belinda J McClaren, Jade Caruana, et al.
Science Translational Medicine|April 3, 2024
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle diseaseSandra Donkervoort, Martijn van de Locht, Dario Ronchi, et al.
Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathyGianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, et al.
Annals of Neurology|January 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease SpectrumSandra Coppens, Nicolas Deconinck, Patricia Sullivan, et al.
Pageof 6