Search Results - "Leal, S M"

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  1. 1

    Does Bacterial Elasticity Affect Adhesion to Polymer Fibers? by Tamayo, Laura, Melo, Francisco, Caballero, Leonardo, Hamm, Eugenio, Díaz, M, Leal, M. S, Guiliani, N, Urzúa, M. D

    Published in ACS applied materials & interfaces (25-03-2020)
    “…The factors governing bacterial adhesion to substrates with different topographies are still not fully identified. The present work seeks to elucidate for the…”
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    Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) by Ferguson, P J, Chen, S, Tayeh, M K, Ochoa, L, Leal, S M, Pelet, A, Munnich, A, Lyonnet, S, Majeed, H A, El-Shanti, H

    Published in Journal of medical genetics (01-07-2005)
    “…Background: Majeed syndrome is an autosomal recessive, autoinflammatory disorder characterised by chronic recurrent multifocal osteomyelitis and congenital…”
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  3. 3

    Test Performance and Potential Clinical Utility of the GenMark Dx ePlex Blood Culture Identification Gram-Negative Panel by McCarty, T P, Cumagun, P, Meeder, J, Moates, D, Edwards, W S, Hutchinson, J, Lee, R A, Leal, Jr, S M

    Published in Microbiology spectrum (14-02-2023)
    “…The test performance and potential clinical utility of the ePlex blood culture identification Gram-negative (BCID-GN) panel was evaluated relative to…”
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    Journal Article
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    Long term measurements of aerosol optical properties at a primary forest site in Amazonia by Rizzo, L. V, Artaxo, P, Müller, T, Wiedensohler, A, Paixão, M, Cirino, G. G, Arana, A, Swietlicki, E, Roldin, P, Fors, E. O, Wiedemann, K. T, Leal, L. S. M, Kulmala, M

    Published in Atmospheric chemistry and physics (01-03-2013)
    “…A long term experiment was conducted in a primary forest area in Amazonia, with continuous in-situ measurements of aerosol optical properties between February…”
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    Amino Acid-Functionalized Polyelectrolyte Films as Bioactive Surfaces for Cell Adhesion by Leal, M. S, Briones, X, Villalobos, V, Queneau, Y, Leiva, A, Ríos, H. E, Pavez, J, Silva, C. P, Carrasco, C, Neira-Carrillo, Andrónico, Roth, A. D, Tamayo, L, Urzúa, M. D

    Published in ACS applied materials & interfaces (05-06-2019)
    “…Surfaces were prepared with polyelectrolyte derivatives of poly­(styrene-alt-maleic anhydride) (PSMA) functionalized with amino acids of different hydropathy…”
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    Mutations in the γ-Actin Gene ( ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26) by Zhu, M., Yang, T., Wei, S., DeWan, A.T., Morell, R.J., Elfenbein, J.L., Fisher, R.A., Leal, S.M., Smith, R. J.H., Friderici, K.H.

    Published in American journal of human genetics (01-11-2003)
    “…Age-related hearing loss (presbycusis) is a significant problem in the population. The genetic contribution to age-related hearing loss is estimated to be…”
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    microsatellite-based, gene-rich linkage map for the AA genome of Arachis (Fabaceae) by Moretzsohn, M.C, Leoi, L, Proite, K, Guimaraes, P.M, Leal-Bertioli, S.C.M, Gimenes, M.A, Martins, W.S, Valls, J.F.M, Grattapaglia, D, Bertioli, D.J

    Published in Theoretical and applied genetics (01-10-2005)
    “…Cultivated peanut (Arachis hypogaea) is an important crop, widely grown in tropical and subtropical regions of the world. It is highly susceptible to several…”
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  10. 10

    A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type by Naeem, M, Wajid, M, Lee, K, Leal, S M, Ahmad, W

    Published in Journal of medical genetics (01-03-2006)
    “…Background: Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. To date, four different types of ectodermal dysplasia…”
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    Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections by Regalado, E.S., Guo, D.C., Santos-Cortez, R.L.P., Hostetler, E., Bensend, T.A., Pannu, H., Estrera, A., Safi, H., Mitchell, A.L., Evans, J.P., Leal, S.M., Bamshad, M., Shendure, J., Nickerson, D.A., Milewicz, D.M.

    Published in Clinical genetics (01-06-2016)
    “…Marfan syndrome (MFS) due to mutations in FBN1 is a known cause of thoracic aortic aneurysms and acute aortic dissections (TAAD) associated with pleiotropic…”
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    Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene by Varga, R, Kelley, P M, Keats, B J, Starr, A, Leal, S M, Cohn, E, Kimberling, W J

    Published in Journal of medical genetics (01-01-2003)
    “…[...]hearing is a complex process. Since a hearing defect might occur at any place along the auditory pathway, it would seem reasonable to expect to be able to…”
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  14. 14

    Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment by Lee, K, Khan, S, Islam, A, Ansar, M, Andrade, P B, Kim, S, Santos-Cortez, R L P, Ahmad, W, Leal, S M

    Published in Clinical genetics (01-07-2012)
    “…Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos‐Cortez RLP, Ahmad W, Leal SM. Novel TMPRSS3 variants in Pakistani families with autosomal recessive…”
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    A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia by Mendoza-Fandino, GA, Gee, JM, Ben-Dor, S, Gonzalez-Quevedo, C, Lee, K, Kobayashi, Y, Hartiala, J, Myers, RM, Leal, SM, Allayee, H, Patel, PI

    Published in Clinical genetics (01-09-2011)
    “…Mendoza‐Fandino GA, Gee JM, Ben‐Dor S, Gonzalez‐Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers RM, Leal SM, Allayee H, Patel PI. A novel g.‐1258G>A mutation…”
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  17. 17

    Analysis of the relationship between local climate change mitigation actions and greenhouse gas emissions – Empirical insights by Azevedo, Isabel, Horta, Isabel, Leal, Vítor M.S.

    Published in Energy policy (01-12-2017)
    “…Local actions are seen as of major importance for the achievement of climate change mitigation targets. In the past few years, the number of local action plans…”
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    Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment by Santos, RLP, Wajid, M, Pham, TL, Hussan, J, Ali, G, Ahmad, W, Leal, SM

    Published in Clinical genetics (01-01-2005)
    “…The Pakistani population has become an important resource for research on autosomal recessive non‐syndromic hearing impairment (ARNSHI) due to the availability…”
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    Analytical performance and potential clinical utility of the GenMark Dx ePlex® blood culture identification gram-positive panel by McCarty, T.P., White, C.M., Meeder, J., Moates, D., Pierce, H.M., Edwards, W.S., Hutchinson, J., Lee, R.A., Leal, S.M.

    “…The test performance and potential clinical utility of the ePlex® BCID Gram-Positive (GP) Panel was evaluated relative to MALDI-TOF mass spectrometry on…”
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    Journal Article