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Current Opinion in Neurology
|
July 17, 2024
Current advance on distal myopathy genetics
Johanna Ranta-Aho, Mridul Johari, Bjarne Udd
Journal of Neuromuscular Diseases
|
March 17, 2020
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?
Marco Savarese, Salla Välipakka, Mridul Johari, et al.
European Journal of Human Genetics : EJHG
|
July 18, 2024
Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe?
Silvia Kalantari, Raquel Gouveia Silva, Mridul Johari, et al.
European Journal of Human Genetics : EJHG
|
May 14, 2026
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references
Chiara Folland, Gavin Monahan, James Breen, et al.
Epilepsia Open
|
May 24, 2024
Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes
Henna Jonsson, Eija Gaily, Susanna Stjerna, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
January 18, 2021
Panorama of the distal myopathies
Marco Savarese, Jaakko Sarparanta, Anna Vihola, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2013
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1
Emil Ylikallio, Mridul Johari, Svetlana Konovalova, et al.
Communications Biology
|
April 10, 2024
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions
Huahua Zhong, Veronica Sian, Mridul Johari, et al.
Annals of Clinical and Translational Neurology
|
September 22, 2022
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11
Mridul Johari, George Papadimas, Constantinos Papadopoulos, et al.
Journal of Neurology
|
March 3, 2022
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
Mridul Johari, Anna Vihola, Johanna Palmio, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 53) with videos related to
Sort By:
Page
of 6
Current Opinion in Neurology
|
July 17, 2024
Current advance on distal myopathy genetics
Johanna Ranta-Aho, Mridul Johari, Bjarne Udd
Journal of Neuromuscular Diseases
|
March 17, 2020
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?
Marco Savarese, Salla Välipakka, Mridul Johari, et al.
European Journal of Human Genetics : EJHG
|
July 18, 2024
Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe?
Silvia Kalantari, Raquel Gouveia Silva, Mridul Johari, et al.
European Journal of Human Genetics : EJHG
|
May 14, 2026
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references
Chiara Folland, Gavin Monahan, James Breen, et al.
Epilepsia Open
|
May 24, 2024
Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes
Henna Jonsson, Eija Gaily, Susanna Stjerna, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|
January 18, 2021
Panorama of the distal myopathies
Marco Savarese, Jaakko Sarparanta, Anna Vihola, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2013
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1
Emil Ylikallio, Mridul Johari, Svetlana Konovalova, et al.
Communications Biology
|
April 10, 2024
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions
Huahua Zhong, Veronica Sian, Mridul Johari, et al.
Annals of Clinical and Translational Neurology
|
September 22, 2022
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11
Mridul Johari, George Papadimas, Constantinos Papadopoulos, et al.
Journal of Neurology
|
March 3, 2022
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
Mridul Johari, Anna Vihola, Johanna Palmio, et al.
Page
of 6