106,388 research outputs found
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
No full textThe biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes. Weaver syndrome is a human overgrowth condition characterised by tall stature, dysmorphic facial features, learning disability and variable additional features. We performed exome sequencing in four individuals with Weaver syndrome, identifying a mutation in the histone methyltransferase, EZH2, in each case. Sequencing of EZH2 in additional individuals with overgrowth identified a further 15 mutations. The EZH2 mutation spectrum in Weaver syndrome shows considerable overlap with the inactivating somatic EZH2 mutations recently reported in myeloid malignancies. Our data establish EZH2 mutations as the cause of Weaver syndrome and provide further links between histone modifications and regulation of human growth
Maktabat Al Muthanna Baghdad Feb-May 1962
No full textOn the same date, Ali Al-Mansouri issued an official financial statement confirming that the Al-Khanji Foundation owed a total of 11.375.أصدر علي المنصوري بيانًا ماليًا رسميًا بتاريخ 25 نيسان 1962 يُفيد بأن مؤسسة الخانجي مدينة بمبلغ إجمالي قدره 11,375
Data for: Shifting Tropical Cyclone Genesis and Landfall Patterns with Impacts on Southeast Asia in a Warmer Climate
No full textData from Weaver et al., (2024)
Shifting Seasonal Tropical Cyclone Genesis and Landfall Patterns with Impacts on Southeast Asia in a Warmer Climate
(under review
Qilādat al-jawāhir fī dhikr al-Ghawth al-Rifāʻī wa-atbāʻih al-akābir
No full textA book on Sufism on the Rifa'i way, in which the author collects virtues, conditions, dignity, sayings, behavior, method, and the realizations of the truth of Sheikh Ahmed Muhyi al-Din Abu al-Abbas al-Kabeer al-Rifa'i. Furthermore, the user talked about the widespread support he receives from his followers and the key aspects of his method
Correspondence: Attorneys Jones and Ward to Zebulon Weaver, May 4, 1931
No full textZebulon Weaver (1872-1948) was a lawyer and U.S. Representative from western North Carolina. He was a member of the North Carolina Park Commission and was involved in the land acquisition process that went towards establishment of the Great Smoky Mountain National Park and development of the Blue Ridge Parkway. In this letter, Jones and Ward ask Weaver his availability so that a date can be agreed on for the hearing of the case of the State of North Carolina vs. John Heilman et al.G. L.JONES
GEO. H. WARD
LAW OFFICES
JONES & WARD
THIRD FLOOR LEGAL BUILDING
ASHEVILLE,N.C.
May 4, 1951
Hon. Zeb heaver,
Attorney at Lav/
ASHEVILLE, N.C.
RE: STATE OP NORTH CAROLINA, PETITIONER
VS JOHN K3ILLIAN, ET AL, RESPONDENTS
Dear Mr. Weaver :
We understand that the Jury 1ms
completed the examination of the lands sought
to be condemned in this action.
Haywood County Superior Court
opened today,and will be in session two weeks,
and we will be forced to he in Paynesville
practically every day for the next two weeks,and
therefore, it will be impossible for us to have
a hearing before the Commissi on, until Haywood County
Superior Court is over, ,/e think any day after
that will suit us, provided we are given reasonable
notice.
We would thank you to please let
us know what date will suit you,so we may see if
we can agree on the date for the hearing.
G-HW-MJC
truly yours,
JONES & hAR
Advancing Clinical Dysmorphology Diagnostic Skills: Weaver Syndrome
No full textAl-Mosawi AJ. Advancing Clinical Dysmorphology Diagnostic Skills: Weaver Syndrome. Annals of Pediatrics & Child Health (ISSN: 2373-9312) 2020 Nov 27; 8(10): 1-2 [1211]. Doi:10.5281/zenodo.4624881
https://www.jscimedcentral.com/Pediatrics/pediatrics-8-1211.pd
RRS "Discovery" Cruise D297, 27 Jul - 16 Aug 2005. The geobiology of the Nazare and Setubal Canyons, Portuguese Continental Margin
No full textThe main objective of this cruise was to complete the geological survey of the Setubal and Nazare canyons including more sidescan sonar survey in the canyon mouths and on the lower continental rise north of the mouth of Setubal mouth. Other major objectives were to carry out sampling of the seabed for meio and macro fauna at 3 depth transects in each canyon; to run a series of SHRIMP video runs in the canyons at different depths to quantify the seabed organisms; to measure the amount and type of particulate matter in the water column, particularly near the seabed at the study sites, and to investigate the benthic ichthyofauna and bioluminescence using bottom landers.This cruise provided data for the EU FP6 project HERMES (Hotspot Ecosystem Research on the Margins of European Seas), as well completing work for the EU FP5 project EUROSTRATAFORM
Tradurre col computer : dalla traduzione automatica al CAT e ritorno
No full texthttp://www.fondazionemilano.eu/blogpress/weaver/2018/06/12/tradurre-col-computer/Quando si parla di tecnologie informatiche per la traduzione, ci si riferisce in particolare a quei sistemi progettati appositamente per l’attività traduttiva, da quelli che pretendono di sostituire il traduttore (sistemi di traduzione automatica), a quelli che forniscono al traduttore strumenti per lo svolgimento di attività tradizionalmente svolte manualmente, quali vari tipi di analisi sul testo di partenza e/o di arrivo, la creazione, gestione e consultazione di glossari, le ricerche in corpora linguistici e la produzione del testo di arrivo
Uncinocythere ericksoni Williams & Weaver 2018, sp. nov.
No full textUncinocythere ericksoni (Kozloff, 1955) 1955 Entocythere ericksoni sp. nov. —Kozloff: 156, 159–161, Figs. 13–24 (D, E, H, R, T). 1955 E. ericksoni Kozloff (1955).—Hobbs: 330 (R). 1958 E. ericksoni Kozloff 1955.—Ferguson: 198 (C). 1959 E. ericksoni Kozloff (1955).—Crawford: 167 (C). 1959 E. ericksoni Kozloff (1955).—Westervelt & Kozloff: 239, 243, 244 (C, H, R). 1960 E. erichsoni Kozloff (1955). — Hobbs & Walton: 18, erroneous spelling (R). 1961a E. ericksoni Kozloff (1955: 159).—Hart & Hobbs: 182 (R). 1962 Uncinocythere ericksoni (Kozloff) new combination.—Hart: 122 [as E. ericksoni], 137 (C, D, T). 1963b U. ericksoni (Kozloff, 1955: 159).—Hobbs & Walton: 457 (R). 1965b U. ericksoni (Kozloff, 1955).—Hart: 190 (C, D). 1966 U. ericksoni (Kozloff, 1955).—Hobbs & Walton: 10, 11 (R). 1967 U. erichsoni. —Hobbs, Holt & Walton: 6 [and as E. erichsoni], 7, erroneous spelling (C, E). 1968 U. ericksoni (Kozloff, 1955).—Hobbs & Walton: 251 [and as U. erichsoni, erroneous spelling] (R). 1971 Uncinocythere ericksoni (Kozloff, 1955:159).—Hobbs Jr.: 20, 21, 53, 55 (D, K). 1974 Uncinocythere ericksoni (Kozloff, 1955).—Hart & Hart: 15 [and as E. ericksoni], 122, 129–130, 135, 139 [and as U. erichsoni, erroneous spelling], 141, 212, 233, Pl. XXXVI Figs. 4–5, Pl. LVII (D, H, K, R, T). 1975 Uncinocythere ericksoni (Kozloff, 1955).—Hart & Hart: 49–50 (C, D, H). 1982 U. ericksoni (Kozloff).—Eng & Daniels: 210 (C, H). 1985 U. ericksoni (Kozloff, 1955).—Hart et al.: 4 (K). 2014a Uncinocythere ericksoni (Kozloff, 1955).—Mestre, Monrós & Mesquita-Joanes: 950 (C). 2016 U. ericksoni.—Larson & Williams: 435 (D, H). 2016 Uncinocythere ericksoni (Kozloff 1955).—Weaver & Williams: 255, Fig. 4 E–F (E). 2017 Uncinocythere ericksoni (Kozloff, 1955).—Weaver & Williams: 276 (D).Published as part of Williams, Bronwyn W. & Weaver, Patricia G., 2018, A historical review of the taxonomy and classification of Entocytheridae (Crustacea: Ostracoda: Podocopida), pp. 1-129 in Zootaxa 4448 (1) on pages 90-91, DOI: 10.11646/zootaxa.4448.1.1, http://zenodo.org/record/144449
Tradurre col computer : dalla traduzione automatica al CAT e ritorno
No full texthttp://www.fondazionemilano.eu/blogpress/weaver/2018/06/12/tradurre-col-computer/Quando si parla di tecnologie informatiche per la traduzione, ci si riferisce in particolare a quei sistemi progettati appositamente per l’attività traduttiva, da quelli che pretendono di sostituire il traduttore (sistemi di traduzione automatica), a quelli che forniscono al traduttore strumenti per lo svolgimento di attività tradizionalmente svolte manualmente, quali vari tipi di analisi sul testo di partenza e/o di arrivo, la creazione, gestione e consultazione di glossari, le ricerche in corpora linguistici e la produzione del testo di arrivo
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