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1,916 authors found
quering by "Nemaline myopathy"
.
Showing
the first 25
sort by ONE Index.
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877
One Index
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Schuelke, Markus PhD 0000-0003-2824-3891 |
266 docs (1997 - 2024)
Spinal Muscular Atrophy , Myostatin , Compound heterozygosity , Mitochondrial disease , mRNA modification |
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876
One Index
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Agrawal, Pankaj PhD 0000-0003-3255-0456 |
292 docs (1994 - 2024)
Proband , Exome , Clinical Genomics , Exome Sequencing , Neurodevelopmental disorder |
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868
One Index
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Bonnemann, Carsten PhD 0000-0002-5930-2324 |
508 docs (1990 - 2024)
Skeletal Muscle Atrophy , Collagen VI , Congenital myopathy , Congenital muscular dystrophy , Nemaline myopathy |
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868
One Index
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Broch, Kaspar PhD 0000-0003-4316-805X |
126 docs (2009 - 2024)
Clinical endpoint , Tocilizumab , Left Ventricular Function , Transferrin saturation , Heart Transplant |
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867
One Index
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Muntoni, Francesco PhD 0000-0002-9102-5232 |
667 docs (1990 - 2024)
Spinal Muscular Atrophy , Skeletal Muscle Atrophy , Dystrophin , Congenital muscular dystrophy , Exon skipping |
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867
One Index
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Ottenheijm, Coen PhD 0000-0002-8808-4813 |
192 docs (2005 - 2024)
Nemaline myopathy , Diaphragm (acoustics) , Nebulin , Muscle weakness , Skeletal Muscle Atrophy |
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867
One Index
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Bahler, Jurg PhD 0000-0003-4036-1532 |
383 docs (1991 - 2024)
Schizosaccharomyces , Gene Expression , Transcription (linguistics) , RNA Phase Transitions , Gene Set Enrichment Analysis |
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867
One Index
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Bertini, Enrico PhD 0000-0001-9276-4590 |
1164 docs (1877 - 2024)
Spinal Muscular Atrophy , Skeletal Muscle Atrophy , Inborn Errors of Metabolism , Compound heterozygosity , Congenital myopathy |
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866
One Index
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North, Kathryn PhD 0000-0003-0841-8009 |
585 docs (1980 - 2024)
Neurofibromatosis , Nemaline myopathy , Skeletal Muscle Atrophy , ACTN3 Genotype , Athletic Genetics |
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863
One Index
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Claeys, Kristl PhD 0000-0001-9937-443X |
393 docs (1974 - 2024)
Muscle weakness , Guillain-Barré Syndrome , Skeletal Muscle Atrophy , Spinal Muscular Atrophy , Congenital myopathy |
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863
One Index
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Gautel, Mathias PhD 0000-0003-4027-9803 |
641 docs (1959 - 2024)
Obscurin , Skeletal Muscle Atrophy , Titin Mutations , Myofibril , Congenital myopathy |
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862
One Index
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Bryson-Richardson, Robert PhD 0000-0002-9501-8208 |
105 docs (2003 - 2024)
Myofibril , BAG3 , Identification (biology) , Nemaline myopathy , Table (database) |
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861
One Index
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van de Bunt, Martijn 0000-0002-6744-6125 |
143 docs (2004 - 2024)
Genome-wide association study , Genetic association , Glucose Homeostasis , Glucokinase , Glycogen Metabolism |
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860
One Index
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Yu, Mullin Ho-Chung PhD 0000-0002-3017-0807 |
30 docs (2018 - 2023)
Exome , Exome Sequencing , Founder effect , Medical genetics , Neurodevelopmental disorder |
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858
One Index
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Takahashi, Yoshinori PhD 0000-0002-8004-4817 |
244 docs (1965 - 2024)
Autophagy , Autophagosome , Cellular Self-Digestion , Mitophagy , Ferromagnet Structures |
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857
One Index
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Christophers, Briana PhD 0000-0001-5248-069X |
32 docs (2019 - 2024)
Diversity in Medical Education , Medical School Selection , CINAHL , Pandemic , Physician Workforce |
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851
One Index
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Henk PhD 0000-0002-9516-407X |
363 docs (1983 - 2024)
Nebulin , Obscurin , Titin Mutations , Myofibril , Nemaline myopathy |
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850
One Index
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Swoboda, Kathryn PhD 0000-0002-4593-6342 |
249 docs (1980 - 2024)
Spinal Muscular Atrophy , Survival Motor Neuron Protein , SMN1 , SMN2 , Motor Neuron |
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847
One Index
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Laporte, Jocelyn PhD 0000-0001-8256-5862 |
535 docs (1915 - 2024)
Congenital myopathy , Nemaline myopathy , Muscle weakness , Skeletal Muscle Atrophy , Amphiphysin |
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846
One Index
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Haan, Eric PhD 0000-0002-7310-5124 |
299 docs (1979 - 2024)
Proband , Fetal DNA Analysis , Inborn Errors of Metabolism , Cerebral Palsy , Genetic linkage |
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845
One Index
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Nishino, Ichizo PhD 0000-0001-9452-112X |
1132 docs (1973 - 2024)
Skeletal Muscle Atrophy , Muscle weakness , Congenital muscular dystrophy , Limb-girdle muscular dystrophy , Dermatomyositis |
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844
One Index
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Servais, Laurent PhD 0000-0001-9270-4061 |
605 docs (1994 - 2024)
Spinal Muscular Atrophy , Skeletal Muscle Atrophy , SMN1 , Tolerability , Survival Motor Neuron Protein |
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843
One Index
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Goode, Bruce PhD 0000-0002-6443-5893 |
178 docs (1990 - 2024)
Actin remodeling , Formins , MDia1 , Cofilin , Actin-binding protein |
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842
One Index
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Kijas, James PhD 0000-0002-1417-8278 |
166 docs (1994 - 2024)
Genetic Value Prediction , Genetic Mapping , SNP , Coding region , Introgression |
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841
One Index
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Beggs, Alan PhD 0000-0001-8818-0568 |
1009 docs (1957 - 2024)
Nemaline myopathy , Skeletal Muscle Atrophy , Congenital myopathy , Nebulin , Diamond–Blackfan anemia |
