Zobrazeno 1 - 10 of 2 001 pro vyhledávání: '"Fano, V"'
1
Akademický článek
A Logical Modeling of Severe Ignorance.
Autor: Bonzio, S.1 (AUTHOR) stefano.bonzio@unica.it, Fano, V.2 (AUTHOR), Graziani, P.2 (AUTHOR), Pra Baldi, M.3 (AUTHOR)
Publikováno v: Journal of Philosophical Logic. Aug2023, Vol. 52 Issue 4, p1053-1080. 28p.
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2
Akademický článek
Evaluation of functionality-mobility in patients with skeletal dysplasias. Application of the STEMS tool ("everyday symptoms and mobility screening tool for skeletal dysplasias").
Autor: Ramos-Mejia R; Growth and Development Department, Hospital Garrahan, Buenos Aires, Argentina., Isoldi G; Growth and Development Department, Hospital Garrahan, Buenos Aires, Argentina., Ireland PJ; Queensland Paediatric Rehabilitation Service, Queensland Children's Hospital, South Brisbane, Australia., Rodriguez Celin M; Shriners Hospital for Children, Chicago, Illinois, USA.; Medical College of Wisconsin Marquette University, Milwaukee, Wisconsin, USA., Fano V; Growth and Development Department, Hospital Garrahan, Buenos Aires, Argentina.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63538. Date of Electronic Publication: 2024 Jan 12.
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4
Akademický článek
Growth in puberty in girls with hypochondroplasia, p.Asn540Lys-related mutations.
Autor: Del Pino M; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina., Fano V; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 394-396. Date of Electronic Publication: 2023 Oct 03.
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6
Report
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
Autor: Del Pino M; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina., Huckstadt V; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina., Diaz-Gonzalez F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, UAM, Madrid, Spain., Obregon MG; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina., Heath KE; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Fano V; Growth and Development, Hospital Garrahan, Buenos Aires, Argentina.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2240-2244. Date of Electronic Publication: 2023 May 02.
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8
Akademický článek
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9
Akademický článek
Isolated lateralized overgrowth: clinical, radiological, and auxological characteristics of a single-site cohort of 76 cases.
Autor: Romaris MJ; Servicio de Crecimiento y Desarrollo, Hospital de Pediatría S.A.M.I.C. 'Prof. Dr. Juan P. Garrahan', Ciudad Autónoma de Buenos Aires, Argentina. romarismariajose@gmail.com., Caino S; Servicio de Crecimiento y Desarrollo, Hospital de Pediatría S.A.M.I.C. 'Prof. Dr. Juan P. Garrahan', Ciudad Autónoma de Buenos Aires, Argentina., Adamo P; Servicio de Crecimiento y Desarrollo, Hospital de Pediatría S.A.M.I.C. 'Prof. Dr. Juan P. Garrahan', Ciudad Autónoma de Buenos Aires, Argentina., Fano V; Servicio de Crecimiento y Desarrollo, Hospital de Pediatría S.A.M.I.C. 'Prof. Dr. Juan P. Garrahan', Ciudad Autónoma de Buenos Aires, Argentina.
Publikováno v: Archivos argentinos de pediatria [Arch Argent Pediatr] 2022 Dec; Vol. 120 (6), pp. 405-414. Date of Electronic Publication: 2022 Oct 25.
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10
Report
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.
Autor: Ramos-Mejía R; Growth and Development Department, Hospital Garrahan, Buenos Aires, Argentina., Heath KE; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UAM, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND), Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain., Modamio-Høybjør S; Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UAM, Madrid, Spain.; Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario la Paz, Madrid, Spain.; European Research Network on Rare BONe Disorders (ERN-BOND), Madrid, Spain., Huckstadt V; Genetics Department, Hospital Garrahan, Buenos Aires, Argentina., Calcagni J; Spinal Pathology Department, Hospital Garrahan, Buenos Aires, Argentina., Remondino R; Spinal Pathology Department, Hospital Garrahan, Buenos Aires, Argentina., Fano V; Growth and Development Department, Hospital Garrahan, Buenos Aires, Argentina.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63469. Date of Electronic Publication: 2023 Nov 08.
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