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Human Mutation
|
July 3, 2019
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
Vandana Shashi, Janelle Geist, Youngha Lee, et al.
Frontiers in Genetics
|
February 28, 2022
Case Report: Two Families With <i>HPDL</i> Related Neurodegeneration
Ieva Micule, Baiba Lace, Nathan T Wright, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 1, 2026
From bedside to bench: A multimodal approach uncovering the molecular basis of the <i>MYBPC1</i>-linked Myotrem myopathy
Aishwarya S Iyer, Nathan T Wright, Mary E Cook, et al.
Plos One
|
October 27, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
Daniela Rossi, Johanna Palmio, Anni Evilä, et al.
Blood
|
June 11, 2021
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, et al.
Circulation Research
|
May 12, 2021
Inherited Variants in <i>SCARB1</i> Cause Severe Early-Onset Coronary Artery Disease
Sara N Koenig, Holly C Sucharski, Elizabeth M Jose, et al.
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of 5
Search research articles
Search
Showing results (41-50 of 46) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 46 results.
Human Mutation
|
July 3, 2019
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
Vandana Shashi, Janelle Geist, Youngha Lee, et al.
Frontiers in Genetics
|
February 28, 2022
Case Report: Two Families With <i>HPDL</i> Related Neurodegeneration
Ieva Micule, Baiba Lace, Nathan T Wright, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 1, 2026
From bedside to bench: A multimodal approach uncovering the molecular basis of the <i>MYBPC1</i>-linked Myotrem myopathy
Aishwarya S Iyer, Nathan T Wright, Mary E Cook, et al.
Plos One
|
October 27, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
Daniela Rossi, Johanna Palmio, Anni Evilä, et al.
Blood
|
June 11, 2021
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
Sangmoon Lee, Chang Hoon Shin, Jawon Lee, et al.
Circulation Research
|
May 12, 2021
Inherited Variants in <i>SCARB1</i> Cause Severe Early-Onset Coronary Artery Disease
Sara N Koenig, Holly C Sucharski, Elizabeth M Jose, et al.
Page
of 5