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1
المصدر: Journal of pediatric hematology/oncology. 43(8)
مصطلحات موضوعية: medicine.medical_specialty, Hearing Loss, Sensorineural, Myh9 related disease, Myh9, Immune system, Macrothrombocytopenia, Internal medicine, medicine, Humans, Child, Purpura, Thrombocytopenic, Idiopathic, Hematology, Myosin Heavy Chains, business.industry, medicine.disease, Prognosis, Thrombocytopenic purpura, Thrombocytopenia, Oncology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Immunology, Genotype-Phenotype Correlation, Mutation, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cea9c04ed64620d91d142768536bc186
https://pubmed.ncbi.nlm.nih.gov/34310475 -
2
المؤلفون: Xiaoqiang Lian, Yifeng Sun, Wenchao Zhang, Jihong Hao
المصدر: Hematology. 25:34-36
مصطلحات موضوعية: Cytoplasmic inclusion, business.industry, Hearing loss, Autosomal dominant trait, Hematology, Disease, Granulocyte, Myh9 related disease, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Giant platelets, 030220 oncology & carcinogenesis, parasitic diseases, Immunology, Mutation (genetic algorithm), medicine, medicine.symptom, business, 030215 immunology
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3
المؤلفون: Nienke D Ruigrok, Kitty W. M. Bloemenkamp, Roger E. G. Schutgens, Marieke C Punt, Idske C L Kremer Hovinga, Karin P M van Galen
المصدر: Haemophilia. 27
مصطلحات موضوعية: medicine.medical_specialty, Myosin Heavy Chains, business.industry, Hearing loss, Hearing Loss, Sensorineural, Molecular Motor Proteins, Obstetrical bleeding, MEDLINE, Hematology, General Medicine, Myh9 related disease, medicine.disease, Thrombocytopenia, medicine, Humans, Female, medicine.symptom, Intensive care medicine, business, Genetics (clinical)
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المؤلفون: Alessandro Pecci, Carlo L. Balduini
المصدر: Haematologica. 106:1780-1780
مصطلحات موضوعية: medicine.medical_specialty, Atlas (topology), business.industry, Cytology, medicine, Hematology, Radiology, Myh9 related disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::029cb4cc36d3840a6e42d6b29a46994d
https://doi.org/10.3324/haematol.2021.279022 -
5
المؤلفون: Vasiliki Gkalea, Elisabeth Elefant, Rémi Favier, Celine De Carne, Ruxanda Lapusneanu, A. Rigouzzo
المصدر: A&A Practice. 10:10-12
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, Autosomal dominant macrothrombocytopenia, Eltrombopag, Disease, 030204 cardiovascular system & hematology, Myh9 related disease, Benzoates, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Pregnancy, medicine, Humans, business.industry, Pregnancy Complications, Hematologic, Causative gene, General Medicine, Perioperative, medicine.disease, Thrombocytopenia, Hydrazines, chemistry, Pyrazoles, Female, medicine.symptom, business, Receptors, Thrombopoietin, 030215 immunology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d583e0e949ccb78fbb8c78a04004373
https://doi.org/10.1213/xaa.0000000000000621 -
6
المؤلفون: Anna Savoia, Patrizia Noris, Alessandro Pecci, Daniela De Rocco, Pietro Leoni, Samppa J. Ryhänen, Carlo Zaninetti, Valeria Bozzi, Tania Giangregorio, Judit Demeter, Serena Barozzi
المساهمون: Zaninetti, Carlo, de Rocco, Daniela, Giangregorio, Tania, Bozzi, Valeria, Demeter, Judit, Leoni, Pietro, Noris, Patrizia, Ryhänen, Samppa, Barozzi, Serena, Pecci, Alessandro, Savoia, Anna
مصطلحات موضوعية: Adult, Male, Adolescent, Protein domain, inherited platelet disorder, Chromosome Disorders, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, Frameshift mutation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Protein Domains, Myosin, medicine, Humans, Protein Isoforms, inherited thrombocytopenia, Frameshift Mutation, Gene, Aged, Genetics, Mutation, Myosin Heavy Chains, Molecular Motor Proteins, Chromosome Breakage, inherited platelet disorders, MYH9 -related disease, non-muscle myosin IIA, Hematology, Middle Aged, Thrombocytopenia, Phenotype, Pedigree, Amino Acid Substitution, RNA splicing, Female, Chromosome breakage, 030215 immunology
وصف الملف: STAMPA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52dcd3ddce1386fd4d013b57b89134fe
https://hdl.handle.net/11368/2935725 -
7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8
المؤلفون: Amanda Yates, Steven M. Ruhoy
المصدر: Laboratory Medicine. 47:246-250
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Neutrophils, Uterine fibroids, Hearing Loss, Sensorineural, medicine.medical_treatment, Clinical Biochemistry, 030204 cardiovascular system & hematology, Granulocyte, Myh9 related disease, 03 medical and health sciences, Case Studies, 0302 clinical medicine, Humans, Medicine, Genetic testing, Microscopy, Hysterectomy, Myosin Heavy Chains, medicine.diagnostic_test, business.industry, Molecular Motor Proteins, Biochemistry (medical), medicine.disease, Thrombocytopenia, White (mutation), medicine.anatomical_structure, 030220 oncology & carcinogenesis, Döhle bodies, May–Hegglin anomaly, Female, business
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9
المؤلفون: Jing Wang, Tingting Bai, Shengnan Liu, Shunlan Wang, Xuegong Zhang, Binbin Wang, Xueya Zhou, Shufang Zhang, Yingai Zhang
المصدر: Acta Haematologica. 132:193-198
مصطلحات موضوعية: Genetics, Dna genetics, Point mutation, Genotype, Mutation (genetic algorithm), Missense mutation, Hematology, General Medicine, Disease, Biology, Myh9 related disease, Phenotype
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::399fb2aeb996a8b688c9561f7a2358e0
https://doi.org/10.1159/000356681 -
10
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