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المؤلفون: Kahr Wha., Di Paola J, Fred G. Pluthero, Carcao
المصدر: Platelets. 29(6)
مصطلحات موضوعية: 0301 basic medicine, Adult, Blood Platelets, Male, medicine.medical_specialty, Adolescent, Hemorrhage, Compound heterozygosity, Gray Platelet Syndrome, Gastroenterology, Gray platelet syndrome, 03 medical and health sciences, Young Adult, Megakaryocyte, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, In patient, Platelet, Young adult, Child, Loss function, Aged, Aged, 80 and over, business.industry, Hematology, General Medicine, Blood Proteins, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Mutation (genetic algorithm), Mutation, Female, business
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المؤلفون: Pecci, A, Klersy, C, Gresele, P, Lee, K, De Rocco, D, Bozzi, V, Russo, G, Heller, Pg, Loffredo, G, Ballmaier, M, Fabris, F, Beggiato, E, Kahr, Wha, Pujol-Moix, N, Platokouki, H, Matthijs, G, Noris, P, Yerram, P, Hermans, C, Batzios, S, De Groot, M, Zieger, B, De Candia, E, Fraticelli, V, Kersseboom, R, Piccoli, Gb, Zimmermann, S, Zaninetti, C, Nicchia, E, Baronci, C, Seri, M, Knight, Pj, Balduini, Cl, Savoia, A, Van Geet, C, Geber, B, Economou, M, Fierro, T, Glembotsky, Ac, Vianello, F, Guthner, C.
المساهمون: Pecci, A, Klersy, C, Gresele, P, Lee, Kj, De Rocco, D, Bozzi, V, Russo, G, Heller, Pg, Loffredo, G, Ballmaier, M, Fabris, F, Beggiato, E, Kahr, Wh, Pujol-Moix, N, Platokouki, H, Van Geet, C, Noris, P, Yerram, P, Hermans, C, Gerber, B, Economou, M, De Groot, M, Zieger, B, De Candia, E, Fraticelli, V, Kersseboom, R, Piccoli, Gb, Zimmermann, S, Fierro, T, Glembotsky, Ac, Vianello, F, Zaninetti, C, Nicchia, E, Güthner, C, Baronci, C, Seri, M, Knight, Pj, Balduini, Cl, Savoia, A., DE ROCCO, Daniela, Pujol Moix, N, Nicchia, Elena, Savoia, Anna, University of Zurich
المصدر: Human Mutation, 35(2), 236-247. Wiley
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: Male, Oncology, thrombocytopenia, Medicina Clínica, Disease, Malattia MYH9 associata, Myh9 related disease, MYH9 RELATED DISEASE, Myh9, MYH9, Risk Factors, purl.org/becyt/ford/3.2 [https], Genotype, Genetics(clinical), CRYSTAL-STRUCTURE, Age of Onset, IIA, Genetics (clinical), deafne, MYOSIN HEAVY-CHAIN, EPSTEIN-SYNDROME, Molecular Motor Proteins, FECHTNER SYNDROMES, Trombocitopenia, Penetrance, POWER STROKE STATE, Phenotype, Italy, nephropathy, Female, purl.org/becyt/ford/3 [https], Miosina No Muscular Iia, Adult, 2716 Genetics (clinical), medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, MOTOR DOMAIN, Hearing Loss, Sensorineural, Genetic counseling, 610 Medicine & health, Biology, nonmuscle myosin, Article, Cataract, Nephropathy, 1311 Genetics, Internal medicine, deafness, Genetics, medicine, Humans, Hematología, Gene, Genetic Association Studies, Hereditaria, Myosin Heavy Chains, MUTATIONS, Settore MED/09 - MEDICINA INTERNA, medicine.disease, Amino Acid Substitution, Epstein Syndrome, Mutation, 10032 Clinic for Oncology and Hematology, Linear Models, SMOOTH-MUSCLE MYOSIN
وصف الملف: STAMPA; application/pdf
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المؤلفون: Michele Proietti, X Wang, Yangong Wang, Z Huang, Schiefer A-I., H R Griffin, S Li, Dominik Aschenbrenner, J Pan, M Mehta, Guo C-H., X Cao, Spencer A. Freeman, J Lu, K R Engelhardt, Daniel Kotlarz, Ronald M. Laxer, Melania Capitani, Lin Wang, Aleixo M. Muise, Scott B. Snapper, Y Huang, D Mayr, R Rottapel, N Warner, Tao Zuo, Christine Klein, Siew C. Ng, Bodo Grimbacher, Holm H. Uhlig, Gergely Kriván, I Siddiqui, K Peng, S Bullers, Mathieu Lemaire, Q Li, Lu C-Y., Xue Li, H Decaluwe, D Dissanayake, Daniel J. Mulder, Kaan Boztug, V Goda, Sophie Hambleton, I Dotan, S Elcombe, Klaus Warnatz, S Cohen-Kedar, Kahr Wha., Michael G. Surette, D Li, Rico Chandra Ardy, A N Gammage, Z Zeng
المصدر: Nature Genetics
Nature geneticsمصطلحات موضوعية: Adult, Male, Arthritis, Syk, Gene Expression, chemical and pharmacologic phenomena, Dermatitis, Biology, medicine.disease_cause, Systemic inflammation, environment and public health, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Immune system, hemic and lymphatic diseases, Genetics, medicine, Animals, Humans, Syk Kinase, Family, Gene Knock-In Techniques, Protein Kinase Inhibitors, B cell, 030304 developmental biology, Bone Marrow Transplantation, Mice, Knockout, 0303 health sciences, Base Sequence, Infant, hemic and immune systems, Immune dysregulation, Middle Aged, medicine.disease, Colitis, Pedigree, Transplantation, enzymes and coenzymes (carbohydrates), medicine.anatomical_structure, Arthritis therapy, Mutation, Cancer research, Female, Lymphoma, Large B-Cell, Diffuse, medicine.symptom, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651a820c73d892e5fafca48841eb2d73
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