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5,482 authors found
quering by "Mucopolysaccharidoses"
.
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the first 25
sort by ONE Index.
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952
One Index
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Brunetti-Pierri, Nicola PhD 0000-0002-6895-8819 |
349 docs (1997 - 2024)
Gene Therapy , Inborn Errors of Metabolism , Microcephaly , Transduction (biophysics) , Editorial board |
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890
One Index
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Bentley, Andrew PhD 0000-0002-6883-9246 |
297 docs (1982 - 2024)
Noninvasive Ventilation , Cardiac Ultrasound , Lung Ultrasound , Asthma , 2019-20 coronavirus outbreak |
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885
One Index
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Esko, Jeffrey PhD 0000-0001-8322-1834 |
418 docs (1976 - 2024)
Heparan Sulfate , Perlecan , Protein Glycosylation , Glycosylation Mechanisms , Glycosylation |
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879
One Index
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Gelb, Michael PhD 0000-0001-7000-5219 |
761 docs (1980 - 2024)
KEKB , Dried blood , Dried blood spot , Phospholipase A , Newborn Screening |
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861
One Index
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Boelens, Jaap Jan PhD 0000-0003-2232-6952 |
539 docs (1988 - 2024)
Hematopoietic Cell Transplantation , Cord blood , Hurler syndrome , Anti-thymocyte globulin , Cumulative incidence |
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860
One Index
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William. S. Sly PhD |
383 docs (1963 - 2022)
Carbonic Anhydrases , Mucopolysaccharidosis , Lysosomal storage disease , Mucopolysaccharidoses , Glucuronidase |
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860
One Index
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Chasnyk, Vyacheslav PhD 0000-0001-5776-1490 |
170 docs (2008 - 2024)
Systemic-onset Juvenile Idiopathic Arthritis , Juvenile Idiopathic Arthritis , Tocilizumab , Canakinumab , Uveitis |
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860
One Index
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Lourenco, Charles PhD 0000-0002-2296-6098 |
288 docs (2004 - 2024)
Mucopolysaccharidoses , Niemann-Pick Disease , Lysosomal Storage Disorders , Inborn Errors of Metabolism , Mucopolysaccharidosis |
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856
One Index
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Parenti, Giancarlo PhD 0000-0002-6287-5748 |
300 docs (1947 - 2024)
Lysosomal Storage Disorders , Glycogen Storage Diseases , Inborn Errors of Metabolism , Enzyme Replacement Therapy , Lysosomal storage disease |
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853
One Index
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Scott, Hamish PhD 0000-0002-5813-631X |
436 docs (1926 - 2024)
Autoimmune regulator , RNA-Seq , AIRE Gene Mutations , Central tolerance , RUNX1 |
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853
One Index
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Berger, Kenneth PhD 0000-0003-4879-6071 |
261 docs (1949 - 2024)
Genome-wide association study , Respiratory , World trade center , pulmonary disease , Genetic association |
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849
One Index
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Cooper, Jonathan PhD 0000-0003-1339-4750 |
490 docs (1967 - 2024)
Batten disease , Neuronal ceroid lipofuscinosis , Neuronal Ceroid Lipofuscinoses , Lung Transplant , Lysosomal storage disease |
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848
One Index
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Ryazantsev, Sergey PhD 0000-0001-5306-8875 |
282 docs (1990 - 2024)
Migrations , Emigration , Pandemic , Youth Migration , Demographic Dynamics |
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845
One Index
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Barbara K. Burton PhD |
382 docs (1963 - 2024)
Mucopolysaccharidoses , Mucopolysaccharidosis type II , Phenylketonuria , Inborn Errors of Metabolism , Hunter syndrome |
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845
One Index
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Shvedova, Anna PhD 0000-0002-5394-3040 |
191 docs (1973 - 2023)
Nanomaterials , Nanotoxicology , Nanoparticles , Nanotubes , Inhalation exposure |
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844
One Index
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Hendriksz, Christian PhD 0000-0003-2179-3639 |
258 docs (2000 - 2024)
Mucopolysaccharidosis , Mucopolysaccharidoses , Mucopolysaccharidosis type II , Hunter syndrome , Lysosomal Storage Disorders |
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844
One Index
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AURICCHIO, Alberto PhD 0000-0002-0832-2472 |
249 docs (1960 - 2024)
Adeno-associated virus , Transduction (biophysics) , Photoreceptor Degeneration , AAV , Gene Therapy |
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842
One Index
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Wynn, robert PhD 0000-0002-6046-8428 |
596 docs (1966 - 2024)
Hematopoietic Cell Transplantation , Hurler syndrome , Mucopolysaccharidosis , Mucopolysaccharidosis type I , Cord blood |
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842
One Index
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Aslam, Tariq PhD 0000-0002-9739-7280 |
242 docs (1992 - 2024)
Macular Degeneration , Optical Coherence Tomography , Optical Coherence Tomography Angiography , Intraocular Pressure , Retinal Artery Occlusion |
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841
One Index
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PhD 0000-0003-1555-1086 |
278 docs (2001 - 2024)
Nutrition , Creatine , Heat Stress , In ovo , Malondialdehyde |
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841
One Index
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Lacombe, Didier PhD 0000-0002-8956-2207 |
619 docs (1960 - 2024)
Rubinstein–Taybi syndrome , Microcephaly , Fabry Disease , Haploinsufficiency , Costello syndrome |
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840
One Index
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Cox, Timothy Martin PhD 0000-0002-4951-9941 |
384 docs (1978 - 2024)
Gaucher Disease , Lysosomal Storage Disorders , Aldolase B , Lysosomal storage disease , Sandhoff disease |
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839
One Index
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Wijburg, Frits PhD 0000-0002-0950-1368 |
413 docs (1977 - 2024)
Mucopolysaccharidoses , Inborn Errors of Metabolism , Mucopolysaccharidosis , Mucopolysaccharidosis type I , Fabry Disease |
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838
One Index
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Shimada, Tsutomu PhD 0000-0003-2552-4348 |
400 docs (1957 - 2023)
Cytochrome P450 , Hydroxylation , Enzyme Activities , CYP2A6 , Microsoma |
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838
One Index
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Singh, Rajendra PhD 0000-0003-2658-1125 |
210 docs (1975 - 2023)
Vibration Analysis , Nonlinear Dynamics , Gear Dynamics , Engine Mounting Systems , Hydraulic Engine Mounts |
