المؤلفون: Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, FABRIS, FABRIZIO, 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, FABRIZIO, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A.

المساهمون: Pecci, A, Klersy, C, Gresele, P, Lee, Kj, De Rocco, D, Bozzi, V, Russo, G, Heller, Pg, Loffredo, G, Ballmaier, M, Fabris, Fabrizio, 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, Fabrizio, Zaninetti, C, Nicchia, E, Güthner, C, Baronci, C, Seri, M, Knight, Pj, Balduini, Cl, Savoia, A.

مصطلحات موضوعية: MYH9, nonmuscle myosin, thrombocytopenia, nephropathy

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24186861; info:eu-repo/semantics/altIdentifier/wos/WOS:000329537400008; volume:35; issue:2; firstpage:236; lastpage:247; numberofpages:12; journal:HUMAN MUTATION; http://hdl.handle.net/11577/2836756Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84891956402

الإتاحة: https://doi.org/10.1002/humu.22476Test
http://hdl.handle.net/11577/2836756Test

المؤلفون: Simeoni, I, Stephens, JC, Hu, F, Deevi, SV, Megy, K, Bariana, TK, Lentaigne, C, Schulman, S, Sivapalaratnam, S, Vries, MJ, Westbury, SK, Greene, D, Papadia, S, Alessi, MC, Attwood, AP, Ballmaier, M, Baynam, G, Bermejo, E, Bertoli, M, Bray, PF, Bury, L, Cattaneo, M, Collins, P, Daugherty, LC, Favier, R, French, DL, Furie, B, Gattens, M, Germeshausen, M, Ghevaert, C, Goodeve, A, Guerrero, J, Hampshire, DJ, Hart, DP, Heemskerk, JW, Henskens, YM, Hill, M, Hogg, N, Jolley, JD, Kahr, WH, Kelly, AM, Kerr, R, Kostadima, M, Kunishima, S, Lambert, MP, Liesner, R, Lopez, J, Mapeta, RP, Mathias, M, Millar, CM, Nathwani, A, Neerman-Arbez, M, Nurden, AT, Nurden, P, Othman, M, Peerlinck, K, Perry, DJ, Poudel, P, Reitsma, P, Rondina, M, Smethurst, PA, Stevenson, W, Szkotak, A, Tuna, S, Van Geet, C, Whitehorn, D, Wilcox, DA, Zhang, B, Revel-Vilk, S, Gresele, P, Bellissimo, D, Penkett, CJ, Laffan, MA, Mumford, AD, Rendon, A, Gomez, K, Freson, K, Ouwehand, WH, Turro, E

المساهمون: Medical Research Council (MRC)

المصدر: 2803 ; 2791

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Hematology, VON-WILLEBRAND-DISEASE, WISKOTT-ALDRICH SYNDROME, FACTOR-VIII GENE, UNITED-KINGDOM, GENOME, MANAGEMENT, MUTATIONS, LINKAGE, POLYMORPHISMS, POPULATION, Blood Platelet Disorders, Case-Control Studies, DNA Copy Number Variations, Female, Genetic Association Studies, Genetic Predisposition to Disease, Hemorrhage, High-Throughput Nucleotide Sequencing, Humans, Male, Mutation, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Thrombosis, Immunology

العلاقة: Blood; http://hdl.handle.net/10044/1/32189Test; MR/J011711/1

الإتاحة: https://doi.org/10.1182/blood-2015-12-688267Test
http://hdl.handle.net/10044/1/32189Test

المؤلفون: Kahr WH, SAVOIA, ANNA, Pluthero FG, Li L, Christensen H, DE ROCCO, DANIELA, Traivaree C, Butchart SE, Curtin J, Stollar EJ, Forman Kay JD, Blanchette V.S.

المساهمون: Kahr, Wh, Savoia, Anna, Pluthero, Fg, Li, L, Christensen, H, DE ROCCO, Daniela, Traivaree, C, Butchart, Se, Curtin, J, Stollar, Ej, Forman Kay, Jd, Blanchette, V. S.

مصطلحات موضوعية: Inherited macrothrombocytopenia, MYH9-related disorder: megakaryocyte, emperipolesi, myosin IIA

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19967157; info:eu-repo/semantics/altIdentifier/wos/WOS:000272973700031; volume:102; issue:6; firstpage:1241; lastpage:1250; numberofpages:10; journal:THROMBOSIS AND HAEMOSTASIS; http://hdl.handle.net/11562/1064352Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-72949095125

الإتاحة: https://doi.org/10.1160/TH09-02-0119Test
http://hdl.handle.net/11562/1064352Test

المؤلفون: Israels, SJ, Kahr, WH, Blanchette, VS, Luban, NL, Rivard, GE

المصدر: Pediatrics Faculty Publications

العلاقة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/5466Test

الإتاحة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/5466Test

المؤلفون: Bogue CO, Leahy TR, Rea DJ, Bitnun A, Brandao LR, Kahr WH, Jacobson S, Amaral JG, Connolly BL

المصدر: CardioVascular & Interventional Radiology; Nov2009, Vol. 32 Issue 6, p1304-1307, 4p

المؤلفون: De Candia, Erica

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, Erica, 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.

مصطلحات موضوعية: MYH9, Deafness, Nephropathy, nonmuscle myosin, thrombocytopenia, Settore MED/09 - MEDICINA INTERNA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24186861; info:eu-repo/semantics/altIdentifier/wos/WOS:000329537400008; volume:35; issue:2; firstpage:236; lastpage:247; numberofpages:12; issueyear:2014; journal:HUMAN MUTATION; http://hdl.handle.net/10807/64474Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84891956402

الإتاحة: https://doi.org/10.1002/humu.22476Test
http://hdl.handle.net/10807/64474Test

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
instname

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b3202308793ba3d6d45b4fe01ee6e8Test
https://research.rug.nl/en/publications/8f687127-8140-4108-abe8-7c14ccda866aTest

المؤلفون: Sheila Butchart, Ling Li, Chanchai Traivaree, Julie D. Forman-Kay, Elliott J. Stollar, Hilary Christensen, Fred G. Pluthero, Victor S. Blanchette, Daniela De Rocco, Walter H. A. Kahr, Anna Savoia, Julie Curtin

المساهمون: Kahr, Wh, Savoia, Anna, Pluthero, Fg, Li, L, Christensen, H, DE ROCCO, Daniela, Traivaree, C, Butchart, Se, Curtin, J, Stollar, Ej, Forman Kay, Jd, Blanchette, V. S.

المصدر: Thrombosis and haemostasis. 102(6)

مصطلحات موضوعية: Blood Platelets, Male, Models, Molecular, Heterozygote, MYH9-related disorder: megakaryocytes, Mutation, Missense, Biology, Malattia MYH9 associata, Immunoglobulin light chain, medicine.disease_cause, myosin IIA, Inclusion bodies, src Homology Domains, chemistry.chemical_compound, Megakaryocyte, Microscopy, Electron, Transmission, Myosin, medicine, Missense mutation, Inherited macrothrombocytopenia, Humans, Platelet, Child, emperipolesis, Conserved Sequence, Inclusion Bodies, Mutation, Myosin Heavy Chains, Molecular Motor Proteins, Hematology, Molecular biology, Thrombocytopenia, Adenosine diphosphate, medicine.anatomical_structure, chemistry, Biochemistry, Amino Acid Substitution, Case-Control Studies, Female, Blood Platelet Disorders, Megakaryocytes, Granulocytes

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7cd71560662d7eec8f30a1f995786edTest
https://pubmed.ncbi.nlm.nih.gov/19967157Test