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JAMA Neurology
|
October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned
Roula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
NF1-specific growth charts for head circumference over the first three years of life
Ayan S Mandal, Russell T Shinohara, Benjamin Jung, et al.
The Journal of Cell Biology
|
June 24, 2009
MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes
Michele Bastiani, Libin Liu, Michelle M Hill, et al.
Nature
|
January 10, 2020
A brief history of human disease genetics
Melina Claussnitzer, Judy H Cho, Rory Collins, et al.
British Journal of Sports Medicine
|
November 20, 2015
Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement
Nick Webborn, Alun Williams, Mike McNamee, et al.
Human Mutation
|
December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
Sarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Science Advances
|
August 27, 2025
<i>ACTN3</i> genotype influences androgen response in developing murine skeletal muscle
Kelly N Roeszler, Michael See, Lyra R Meehan, et al.
Human Mutation
|
September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathies
Vilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
American Journal of Human Genetics
|
November 27, 2010
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
Nyamkhishig Sambuughin, Kyle S Yau, Montse Olivé, et al.
Neuromuscular Disorders : NMD
|
March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
Rachel D Susman, Susana Quijano-Roy, Nan Yang, et al.
Page
of 34
Search research articles
Search
Showing results (291-300 of 333) with videos related to
Sort By:
Page
of 34
JAMA Neurology
|
October 6, 2015
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned
Roula Ghaoui, Sandra T Cooper, Monkol Lek, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 16, 2025
NF1-specific growth charts for head circumference over the first three years of life
Ayan S Mandal, Russell T Shinohara, Benjamin Jung, et al.
The Journal of Cell Biology
|
June 24, 2009
MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes
Michele Bastiani, Libin Liu, Michelle M Hill, et al.
Nature
|
January 10, 2020
A brief history of human disease genetics
Melina Claussnitzer, Judy H Cho, Rory Collins, et al.
British Journal of Sports Medicine
|
November 20, 2015
Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement
Nick Webborn, Alun Williams, Mike McNamee, et al.
Human Mutation
|
December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant
Sarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Science Advances
|
August 27, 2025
<i>ACTN3</i> genotype influences androgen response in developing murine skeletal muscle
Kelly N Roeszler, Michael See, Lyra R Meehan, et al.
Human Mutation
|
September 11, 2014
Mutation update: the spectra of nebulin variants and associated myopathies
Vilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A Sandaradura, et al.
American Journal of Human Genetics
|
November 27, 2010
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
Nyamkhishig Sambuughin, Kyle S Yau, Montse Olivé, et al.
Neuromuscular Disorders : NMD
|
March 16, 2010
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
Rachel D Susman, Susana Quijano-Roy, Nan Yang, et al.
Page
of 34