Zobrazeno 1 - 10
of 73
pro vyhledávání: '"M. Baffico"'
Publikováno v:
Journal of Cystic Fibrosis. 21:S21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5da6aa801f156ffbb3c3f4c2523050dc
https://doi.org/10.1016/s1569-1993(22)00213-2
https://doi.org/10.1016/s1569-1993(22)00213-2
Autor:
Paolo Radice, Manuela Marra, Vincenzo Falbo, L. Varesco, A. Ravani, Maria Antonietta Melis, Michele Antonio Salvatore, Nicoletta Resta, Fabrizio Tosto, A. M. Baffico, E. Pelo, S Russo, Manuela Seia, C. Rosatelli, Domenica Taruscio, Giovanna Floridia, Federica Censi, Marina Grasso
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2013 (2013)
BioMed Research International, Vol 2013 (2013)
Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e51c33ed4bddac7c14b1372d66dad510
https://doi.org/10.1155/2013/739010
https://doi.org/10.1155/2013/739010
Autor:
M S Rady, G V Sciarratta, Ibtessam R. Hussein, A S Khalifa, S A Temtamy, M Baffico, N M Heshmat, S el-Moselhy, G Romeo
Publikováno v:
Scopus-Elsevier
beta-Thalassemia is a significant public health problem in Egypt where over 1000 of the annual 1.5 million newborns are expected to be affected with this disorder. A preventive program of the disease should be multifaceted with its technical componen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb0b129aea1ba2ca36a47f7bb282066e
https://doi.org/10.3109/03630269708997511
https://doi.org/10.3109/03630269708997511
Autor:
Annie C. Robin, S. Vasquez, Veronica Motta, Marina Rejkuba, Oscar A. Gonzalez, Manuela Zoccali, Victor P. Debattista, Vanessa Hill, Alvio Renzini, Dante Minniti, M. Baffico, Matteo Monelli, E. Gardner
Publikováno v:
Astronomy and Astrophysics-A&A
Astronomy and Astrophysics-A&A, EDP Sciences, 2013, 555, pp.A91. ⟨10.1051/0004-6361/201220222⟩
ASTRONOMY & ASTROPHYSICS
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Astronomy and Astrophysics-A&A, EDP Sciences, 2013, 555, pp.A91. ⟨10.1051/0004-6361/201220222⟩
ASTRONOMY & ASTROPHYSICS
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
It has recently been discovered that the Galactic bulge is X-shaped, with the two southern arms of the X both crossing the lines of sight at l=0 and |b|>4, hence producing a double red clump (RC) in the bulge CMD. Dynamical models predict the formati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bba08202193e4cc20a8af65f69ba5df1
http://arxiv.org/abs/1304.6427
http://arxiv.org/abs/1304.6427
Autor:
Carlos Guirao, Th. Rivinius, Krzysztof G. Hełminiak, Leonardo Vanzi, G. Avila, D. Baade, S. Štefl, J. Chacon, M. Baffico
Publikováno v:
MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
We present PUCHEROS, the high-resolution echelle spectrograph, developed at the Center of Astro-Engineering of Pontificia Universidad Catolica de Chile to provide an effective tool for research and teaching of astronomy. The instrument is fed by a si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d380d90d917e7af6d155823d9eadc3f
Publikováno v:
Genetic counseling (Geneva, Switzerland). 17(4)
Thanatophoric dysplasia (TD) is a lethal dwarfism condition due to missense mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Examination of TD patients reveals mainly the involvement of the skeletal system and the brain, but also re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d82c90f87d34d7412fd8bc87ffcd9423
https://pubmed.ncbi.nlm.nih.gov/17375526
https://pubmed.ncbi.nlm.nih.gov/17375526
Autor:
V, Scimè-Degani, G, Ivaldi, M, Baffico, D, Leone, M, Parodi, D, Pascotto, F, Garofalo, E, Rabino-Massa
Publikováno v:
Panminerva medica. 43(2)
A young woman aged 21 was found to be a new carrier of Hb-Belfast: beta 15 (A 12) Trp--Arg, and the characteristics of her hemoglobinopathy were not different from those of the four cases so far described: mild hemolysis with molecular instability of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1d38270f35639435b8d2ec70e411a014
https://pubmed.ncbi.nlm.nih.gov/11449185
https://pubmed.ncbi.nlm.nih.gov/11449185
Publikováno v:
La Clinica terapeutica. 151(6)
Familial Mediterranean fever is an autosomal recessive hereditary disease characterised by recurrent fever, poliserositis, chest and/or abdominal pain. Up to date diagnosis is based on clinical symptoms, familial anamnesis and response to colchicine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::daef1f7cc04d925b45d433c8b34164a6
https://pubmed.ncbi.nlm.nih.gov/11211479
https://pubmed.ncbi.nlm.nih.gov/11211479
Autor:
Mario Pirastu, Antonio Cao, Stefania Murru, D. Poddie, M. Baffico, S. Agosti, C. Melevendi, G. V. Sciarratta
Publikováno v:
Human mutation. 1(2)
This study describes a patient with a thalassemia intermedia-like phenotype in whom beta-globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T-C substitution at codon 114 of the beta-globin gene arising as a de novo mutation. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::173aa52e33d3d7a22b483c3bf99cbe34
https://pubmed.ncbi.nlm.nih.gov/1301199
https://pubmed.ncbi.nlm.nih.gov/1301199
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