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1دورية أكاديمية
المصدر: Children, Vol 8, Iss 7, p 562 (2021)
مصطلحات موضوعية: radial club hand, ulnarization, radialization, centralization, radial aplasia, radial longitudinal defect, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المصدر: Children, Vol 8, Iss 562, p 562 (2021)
Children
Volume 8
Issue 7مصطلحات موضوعية: radial club hand, Ulnar head, radialization, Radial aplasia, Wrist, Pediatrics, Article, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, Radial club hand, centralization, radial longitudinal defect, Radial deviation, Medicine, 030212 general & internal medicine, Orthodontics, 030222 orthopedics, business.industry, Ulna, medicine.disease, Third generation, ulnarization, radial aplasia, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, business
وصف الملف: application/pdf
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المؤلفون: Michaela Hýblová, Vanda Rísová, Jan Miertus, Darina Ďurovčíková, Erika Tomková, Matteo Bertelli, Paolo Enrico Maltese
المصدر: Journal of Biotechnology. 311:44-48
مصطلحات موضوعية: Male, 0106 biological sciences, 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, Bioengineering, Compound heterozygosity, 01 natural sciences, Applied Microbiology and Biotechnology, 03 medical and health sciences, Thyroid dyshormonogenesis, Bilateral radial aplasia, Pathognomonic, 010608 biotechnology, Congenital Hypothyroidism, medicine, Congenital Bone Marrow Failure Syndromes, Humans, Genetic Testing, Upper Extremity Deformities, Congenital, Exome sequencing, business.industry, TAR syndrome, Infant, RNA-Binding Proteins, General Medicine, medicine.disease, Thrombocytopenia, Radius, Phenotype, 030104 developmental biology, Mutation, Absent radius, business, Biotechnology
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المؤلفون: Arimatias Raitio, Ilkka Helenius, Eliisa Löyttyniemi, Anna-Maria Lahesmaa-Korpinen, Johanna Syvänen, Mika Gissler, Yrjänä Nietosvaara
المساهمون: Department of Surgery, I kirurgian klinikka (Töölö), University of Helsinki, Helsinki University Hospital Area, HUS Children and Adolescents, Lastenkirurgian yksikkö, Children's Hospital
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Population, Radial aplasia, Population based, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Risk Factors, Prevalence, Genetics, medicine, Humans, Abnormalities, Multiple, Advanced maternal age, Risk factor, education, Finland, Genetics (clinical), 030222 orthopedics, 0303 health sciences, education.field_of_study, business.industry, 030305 genetics & heredity, Infant, Newborn, Case-control study, 1184 Genetics, developmental biology, physiology, Syndrome, Prognosis, medicine.disease, 3126 Surgery, anesthesiology, intensive care, radiology, 3. Good health, Radius, medicine.anatomical_structure, Case-Control Studies, Upper limb, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d22b38d0dec5bfaca9307e4685febca
http://hdl.handle.net/10138/353250 -
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المؤلفون: Ekblom, Anna Gerber, Dahlin, Lars, Rosberg, HansE, Wiig, Monica, Werner, Michael, Arner, Marianne
المصدر: BMC Musculoskeletal Disorders. 14
مصطلحات موضوعية: Radial longitudinal deficiency, Aplasia of the radius, Radial aplasia, Radial club hand, Hand function, Children, Functional outcome, ICF-CY, AHA, CHEQ, Medicin och hälsovetenskap, Klinisk medicin, Ortopedi, Medical and Health Sciences, Clinical Medicine, Orthopedics
وصف الملف: electronic
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6دورية أكاديمية
المؤلفون: Dane, Banu, Dane, Cem, Aksoy, Figen, Yayla, Murat
المصدر: Archives of Gynecology and Obstetrics. October 2009 280(4):647-651
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7دورية أكاديمية
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المؤلفون: Chloe Stephens, Sandra Poyatos Pertinez, Wee L. Lam, Julia D H Oh, Edward J. Johnson, Megan Davey
المصدر: Lam, W, Oh, J, Johnson, E J, Poyatos Pertinez, S, Stephens, C & Davey, M 2019, ' Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin ', Journal of Hand Surgery (European Volume), vol. 44, no. 1, pp. 43-50 . https://doi.org/10.1177/1753193418762959
مصطلحات موضوعية: animal structures, Limb Buds, Retinoic acid, Radial aplasia, Tretinoin, Chick Embryo, Thiophenes, 030230 surgery, SHH, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Forearm, retinoic acid, Limb development, Medicine, Animals, Humans, Wings, Animal, Hedgehog Proteins, Sonic hedgehog, Preaxial polydactyly, 030222 orthopedics, Cyclohexylamines, biology, business.industry, Radial dysplasia, Gene Expression Regulation, Developmental, Anatomy, medicine.disease, Hedgehog signaling pathway, radial aplasia, body regions, Polydactyly, Radius, medicine.anatomical_structure, chemistry, Thumb, embryonic structures, Models, Animal, biology.protein, Surgery, business, Signal Transduction
وصف الملف: application/octet-stream
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8576cd93aa8e748d067d7ba86c7b21e
https://pubmed.ncbi.nlm.nih.gov/29587601 -
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المساهمون: University of Zurich, Schulze, Harald
المصدر: British Journal of Haematology. 179:606-617
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, 2720 Hematology, 610 Medicine & health, Radial aplasia, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Tar (tobacco residue), White blood cell, medicine, Congenital Bone Marrow Failure Syndromes, Humans, SNP, Upper Extremity Deformities, Congenital, Child, Platelet Count, TAR syndrome, Infant, Newborn, Bone marrow failure, Genetic Variation, Infant, RNA-Binding Proteins, Chromosome, Hematology, medicine.disease, Thrombocytopenia, Introns, Hematopoiesis, Radius, 030104 developmental biology, medicine.anatomical_structure, 10036 Medical Clinic, Chromosomes, Human, Pair 1, Child, Preschool, 030220 oncology & carcinogenesis, Immunology, Female, Chromosome Deletion, 5' Untranslated Regions
وصف الملف: ManukjanG,_2017.pdf - application/pdf
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المؤلفون: Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza
المصدر: Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 7 (2019)مصطلحات موضوعية: Microcephaly, Pediatrics, medicine.medical_specialty, Case Report, 030204 cardiovascular system & hematology, Short stature, ESCO2, Craniosynostosis, Roberts syndrome, 03 medical and health sciences, 0302 clinical medicine, Bilateral radial aplasia, 030225 pediatrics, differential diagnosis, Micrognathism, medicine, Baller-Gerold syndrome, patient management, Exome sequencing, RECQL4, genetic counseling, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, Baller–Gerold syndrome, medicine.disease, Pediatrics, Perinatology and Child Health, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67f704edce7d355fc69ab43d768ff54d
https://doi.org/10.3389/fped.2019.00210