206,917 research outputs found

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

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    Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS

    Siebenter bis Achtzehnter Brief / von C. F. Gellert

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    Die Illustration ist 1 Kupferstich auf dem TitelblattVorlageform des Veröffentlichungsangabe: "Berlin und Stralsund bey Gottlieb August Lange. 1770."Illustratio

    Dr. C. E. Eichman Residence, architectural drawing, 1931

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    An architectural drawing for a residence commissioned by Dr. C. E. Eichman and created by the Jokel and Lange architectural firm of Toledo, Ohio. The drawing is pencil on paper, the commission number for this project is 868-J, and the drawing was created in 1931. Also contained in the commission but not available here are interior and exterior elevations, detail drawings of various elements, and a site plan. This proposed design was never implemented and not constructed. The address associated with this commission was identified by the lot number included in the drawings

    Lange, C R, VX14572

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    This record was harvested from a previous catalogue system and will be withdrawn in 2025. Information in this record may be superseded or incomplete. Visit this record in UMA's new catalogue at: https://archives.library.unimelb.edu.au/nodes/view/398267Surname: LANGE. Given Name(s) or Initials: C R. Military Service Number or Last Known Location: VX14572. Missing, Wounded and Prisoner of War Enquiry Card Index Number: 47396.215536 Item: [2016.0049.30560] "Lange, C R, VX14572

    Lange, C.

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    Priest-Lange Reflectometer

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    This Priest-Lange Reflectometer operates off 110 volts AC. �A Variac is used to control the voltage to the lamps, which provide the illumination for the integrating sphere of the reflectometer. �The instrument was last used in 1971 to calibrate the opacity of some porcelain type dental standards. 1920-1971.78 x 74 x 33 c
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