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828 authors found
quering by "Hermansky–Pudlak syndrome"
.
Showing
the first 25
sort by ONE Index.
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939
One Index
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Bonifacino, Juan S. PhD 0000-0002-5673-6370 |
370 docs (1978 - 2024)
Organelle , Transport protein , Retromer , Clathrin adaptor proteins , Protein Sorting Signals |
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907
One Index
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Mumford, Andrew PhD 0000-0002-5523-511X |
266 docs (1989 - 2024)
Platelet disorder , Platelet Reactivity , Blood Platelet Disorders , Genome-wide association study , Intention-to-treat analysis |
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906
One Index
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Ehl, Stephan PhD 0000-0002-9265-2721 |
495 docs (1985 - 2024)
Familial Hemophagocytic Lymphohistiocytosis , Hemophagocytic Lymphohistiocytosis , Primary immunodeficiency , B Cell Abnormalities , Human Inborn Errors |
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891
One Index
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Spritz, Richard PhD 0000-0002-8325-0026 |
291 docs (1978 - 2024)
Vitiligo , Oculocutaneous albinism , Genome-wide association study , Pigmentation , Hermansky–Pudlak syndrome |
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883
One Index
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Carmona-Rivera, Carmelo PhD 0000-0002-7706-1464 |
79 docs (2010 - 2024)
Neutrophil Extracellular Traps , Pathogenesis , Proinflammatory cytokine , Neutrophil extracellular traps , Hidradenitis Suppurativa |
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874
One Index
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Young, Lisa PhD 0000-0003-3297-8532 |
257 docs (1990 - 2024)
Lymphangioleiomyomatosis , Interstitial Lung Disease , Fetal Lung Development , Hermansky–Pudlak syndrome , Sirolimus |
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864
One Index
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Naehrlich, Lutz PhD 0000-0002-7146-6997 |
182 docs (1997 - 2024)
Cystic Fibrosis , Ivacaftor , CFTR , Patient registry , Cystic fibrosis-related diabetes |
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858
One Index
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NURDEN, Paquita PhD 0000-0001-5152-1381 |
276 docs (1993 - 2024)
Platelet disorder , Platelets , Glanzmann's thrombasthenia , Glycoprotein Iba , Megakaryocytopoiesis |
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852
One Index
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Adams, David PhD 0000-0002-6660-1242 |
382 docs (1925 - 2024)
Exome , Oculocutaneous albinism , Exome Sequencing , Proband , Loss function |
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849
One Index
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Mishima, Michiaki PhD |
625 docs (1986 - 2023)
COPD , Asthma , Obstructive Sleep Apnea , pulmonary disease , Respiratory |
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846
One Index
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Cinar, Resat PhD 0000-0002-8597-7253 |
109 docs (2008 - 2024)
Cannabinoid Receptors , CB1 and CB2 Receptors , Endocannabinoid System , Anandamide , Rimonabant |
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845
One Index
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Guenther, Andreas PhD 0000-0002-2187-0975 |
582 docs (1862 - 2024)
Idiopathic Pulmonary Fibrosis , Lung Fibrosis , Interstitial Lung Disease , Surfactant Proteins , Pirfenidone |
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842
One Index
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Murakami, Koji PhD 0000-0002-3745-4650 |
709 docs (1959 - 2024)
Zincate , Anodizing , PET/CT , Cancer Imaging , Paper Mechanics |
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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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839
One Index
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Hagiwara, Masatoshi PhD 0000-0003-1193-7571 |
492 docs (1961 - 2024)
Alternative Splicing , Protein Kinases , SR protein , LIGO and Virgo , Gene Expression Regulation |
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837
One Index
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Nurden, Alan PhD 0000-0002-7878-8307 |
403 docs (1974 - 2024)
Platelets , Glanzmann's thrombasthenia , Glycoprotein Iba , Platelet Reactivity , Platelet disorder |
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835
One Index
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Liesner, Ri PhD 0000-0001-5659-554X |
207 docs (1990 - 2022)
Factor VIII , Recombinant Factor VIIa , Factor IX , Haemophilia B , Hemophilia |
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831
One Index
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Ochs, Matthias PhD 0000-0002-0936-6979 |
301 docs (1994 - 2024)
Stereology , Lamellar granule , Surfactant Proteins , Parenchyma , Lung Regeneration |
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829
One Index
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Robinson, Margaret PhD 0000-0003-0631-0053 |
177 docs (1900 - 2024)
Clathrin adaptor proteins , Grandparenting , Transport protein , Intergenerational Relations , Vesicle Traffic |
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828
One Index
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Gomez, Keith PhD 0000-0002-8934-0700 |
157 docs (1995 - 2024)
Platelet disorder , Genome-wide association study , Blood Platelet Disorders , Factor VIII , Hemophilia |
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822
One Index
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Bibi, Fehmida PhD 0000-0002-5178-1471 |
95 docs (2011 - 2023)
Strain (injury) , Obesity-associated Microbiome , Sponge , Marine bacteriophage , Hajj |
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821
One Index
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Karampini, Ellie PhD 0000-0003-4082-076X |
25 docs (2018 - 2024)
von Willebrand Disease , Organelle , ADAMTS13 , Pathogenesis , von Willebrand Factor |
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820
One Index
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Gachet, Christian PhD 0000-0003-1303-4210 |
464 docs (1969 - 2024)
Platelet Reactivity , P2Y receptor , P2X Receptors , GPVI , Adenosine diphosphate |
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819
One Index
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Malicdan, May Christine PhD 0000-0003-1697-6959 |
280 docs (1993 - 2024)
Hermansky–Pudlak syndrome , Compound heterozygosity , Proband , Skeletal Muscle Atrophy , Joubert syndrome |
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818
One Index
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Morgan, Neil PhD 0000-0001-6433-5692 |
169 docs (1994 - 2024)
Platelet disorder , Blood Platelet Disorders , FANCA , Candidate gene , Exome |
