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zadetkov: 28
1.
  • OMIXCARE: OMICS technologie... OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
    Colin, Estelle; Duffourd, Yannis; Tisserant, Emilie ... Frontiers in cell and developmental biology, 10/2022, Letnik: 10
    Journal Article
    Recenzirano
    Odprti dostop

    Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological ...
Celotno besedilo
Dostopno za: NUK, UL, UM, UPUK
2.
  • Interest of exome sequencin... Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases
    Tran Mau‐Them, Frederic; Duffourd, Yannis; Vitobello, Antonio ... Molecular genetics & genomic medicine, December 2021, Letnik: 9, Številka: 12
    Journal Article
    Recenzirano
    Odprti dostop

    Background Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%–40% in solo‐ES and 50% in ...
Celotno besedilo
Dostopno za: FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK

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3.
Celotno besedilo
Dostopno za: DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UILJ, UKNU, UL, UM, UPUK
4.
  • Accelerated genome sequenci... Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
    Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Olaso, Robert ... European journal of human genetics : EJHG, 05/2022, Letnik: 30, Številka: 5
    Journal Article
    Recenzirano
    Odprti dostop

    Obtaining a rapid etiological diagnosis for infants with early-onset rare diseases remains a major challenge. These diseases often have a severe presentation and unknown prognosis, and the genetic ...
Celotno besedilo
Dostopno za: EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
5.
  • Optimization of the Antibac... Optimization of the Antibacterial Spectrum and the Developability Profile of the Novel-Class Natural Product Corramycin
    Renard, Stephane; Versluys, Stéphanie; Taillier, Thomas ... Journal of medicinal chemistry, 12/2023, Letnik: 66, Številka: 24
    Journal Article
    Recenzirano

    Corramycin 1 is a novel zwitterionic antibacterial peptide isolated from a culture of the myxobacterium Corallococcus coralloides. Though Corramycin displayed a narrow spectrum and modest MICs ...
Celotno besedilo
Dostopno za: PNG, UM
6.
  • Subsurface pulse, crater an... Subsurface pulse, crater and ejecta asymmetry from oblique impacts into granular media
    Suo, Bingcheng; Quillen, A.C.; Neiderbach, Max ... Icarus (New York, N.Y. 1962), 01/2024, Letnik: 408
    Journal Article
    Recenzirano
    Odprti dostop

    We carry out experiments of 104 m/s velocity oblique impacts into a granular medium (sand). Impact craters have nearly round rims even at a grazing angle of about 10°, however, the strength of ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
7.
  • Modeling response of soil e... Modeling response of soil erosion and runoff to changes in precipitation and cover
    Nearing, M.A.; Jetten, V.; Baffaut, C. ... Catena (Giessen), 06/2005, Letnik: 61, Številka: 2
    Journal Article, Conference Proceeding
    Recenzirano

    Global climate has changed over the past century. Precipitation amounts and intensities are increasing. In this study we investigated the response of seven soil erosion models to a few basic ...
Celotno besedilo
Dostopno za: GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
8.
  • Predicting Geographic Range... Predicting Geographic Ranges of Marine Animal Populations Using Stable Isotopes: A Case Study of Great Hammerhead Sharks in Eastern Australia
    Raoult, Vincent; Trueman, Clive N.; Kingsbury, Kelsey M. ... Frontiers in Marine Science, 12/2020, Letnik: 7
    Journal Article
    Recenzirano
    Odprti dostop

    Determining the geographic range of widely dispersed or migratory marine organisms is notoriously difficult, often requiring considerable costs and typically extensive tagging or exploration ...
Celotno besedilo
Dostopno za: NUK, UL, UM, UPUK

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9.
  • PRCC-TFE3 renal carcinomas:... PRCC-TFE3 renal carcinomas: Morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21)
    ARGANI, Pedram; ANTONESCU, Cristina R; HAFEZ, Naiel ... The American journal of surgical pathology, 12/2002, Letnik: 26, Številka: 12
    Journal Article
    Recenzirano

    The reappraisal of genetically defined subsets of renal tumors can help to highlight the key pathologic features of specific neoplastic entities. We report the morphologic, immunophenotypic, ...
Celotno besedilo
Dostopno za: UL
10.
  • Model‐based architecting ev... Model‐based architecting evaluation method for the delivery of complex nuclear projects
    Bourdon, Jérémy; Couturier, Pierre; Chapurlat, Vincent ... Systems engineering, January 2024, 2024-01-00, 20240101, 2024, Letnik: 27, Številka: 1
    Journal Article
    Recenzirano

    Facing the organizational and technological complexity of nuclear infrastructures (NI), the public reluctance in nuclear technology and the increasing restrictive regulatory environment, improving ...
Celotno besedilo
Dostopno za: FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
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zadetkov: 28

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