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Showing 2521 to 2530 of 2530 entries
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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

American journal of medical genetics. Part A

von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG, Thorstensen WM.
PMID: 34515416
Am J Med Genet A. 2022 Jan;188(1):272-282. doi: 10.1002/ajmg.a.62492. Epub 2021 Sep 13.

By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoid tissue. All 12 individuals...

First Measurement of Differential Charged Current Quasielasticlike ν_{μ}-Argon Scattering Cross Sections with the MicroBooNE Detector.

Physical review letters

Abratenko P, Alrashed M, An R, Anthony J, Asaadi J, Ashkenazi A, Balasubramanian S, Baller B, Barnes C, Barr G, Basque V, Bathe-Peters L, Benevides Rodrigues O, Berkman S, Bhanderi A, Bhat A, Bishai M, Blake A, Bolton T, Camilleri L, Caratelli D, Caro Terrazas I, Castillo Fernandez R, Cavanna F, Cerati G, Chen Y, Church E, Cianci D, Cohen EO, Conrad JM, Convery M, Cooper-Troendle L, Crespo-Anadón JI, Del Tutto M, Devitt D, Diurba R, Domine L, Dorrill R, Duffy K, Dytman S, Eberly B, Ereditato A, Escudero Sanchez L, Evans JJ, Fiorentini Aguirre GA, Fitzpatrick RS, Fleming BT, Foppiani N, Franco D, Furmanski AP, Garcia-Gamez D, Gardiner S, Gollapinni S, Goodwin O, Gramellini E, Green P, Greenlee H, Gu L, Gu W, Guenette R, Guzowski P, Hall E, Hamilton P, Hen O, Horton-Smith GA, Hourlier A, Huang EC, Itay R, James C, Jan de Vries J, Ji X, Jiang L, Jo JH, Johnson RA, Jwa YJ, Kamp N, Karagiorgi G, Ketchum W, Kirby B, Kirby M, Kobilarcik T, Kreslo I, LaZur R, Lepetic I, Li K, Li Y, Littlejohn BR, Lorca D, Louis WC, Luo X, Marchionni A, Marcocci S, Mariani C, Marsden D, Marshall J, Martin-Albo J, Martinez Caicedo DA, Mason K, Mastbaum A, McConkey N, Meddage V, Mettler T, Miller K, Mills J, Mistry K, Mogan A, Mohayai T, Moon J, Mooney M, Moor AF, Moore CD, Mousseau J, Murphy M, Naples D, Navrer-Agasson A, Neely RK, Nienaber P, Nowak J, Palamara O, Paolone V, Papadopoulou A, Papavassiliou V, Pate SF, Paudel A, Pavlovic Z, Piasetzky E, Ponce-Pinto ID, Porzio D, Prince S, Qian X, Raaf JL, Radeka V, Rafique A, Reggiani-Guzzo M, Ren L, Rochester L, Rodriguez Rondon J, Rogers HE, Rosenberg M, Ross-Lonergan M, Russell B, Scanavini G, Schmitz DW, Schukraft A, Shaevitz MH, Sharankova R, Sinclair J, Smith A, Snider EL, Soderberg M, Söldner-Rembold S, Soleti SR, Spentzouris P, Spitz J, Stancari M, John JS, Strauss T, Sutton K, Sword-Fehlberg S, Szelc AM, Tagg N, Tang W, Terao K, Thornton RT, Thorpe C, Toups M, Tsai YT, Tufanli S, Uchida MA, Usher T, Van De Pontseele W, Van de Water RG, Viren B, Weber M, Wei H, Williams Z, Wolbers S, Wongjirad T, Wospakrik M, Wu W, Yang T, Yarbrough G, Yates LE, Zeller GP, Zennamo J, Zhang C.
PMID: 33258649
Phys Rev Lett. 2020 Nov 13;125(20):201803. doi: 10.1103/PhysRevLett.125.201803.

We report on the first measurement of flux-integrated single differential cross sections for charged-current (CC) muon neutrino (ν_{μ}) scattering on argon with a muon and a proton in the final state, ^{40}Ar (ν_{μ},μp)X. The measurement was carried out using...

Randomization application: A new tool for academics of the new millennium.

Journal of dental education

Amaral TG, Braga T, Amaral RR, Evans J.
PMID: 33556984
J Dent Educ. 2021 Dec;85:2002-2004. doi: 10.1002/jdd.12563. Epub 2021 Feb 08.

No abstract available.

Childhood acute myeloid leukemia shows a high level of germline predisposition.

Blood

Samaraweera SE, Wang PPS, Li KL, Casolari DA, Feng J, Pinese M, Maung KZY, Leo P, Cowley M, Perkins K, Smith AM, Ellis J, Wee A, Hiwase DK, Scott HS, Schreiber AW, Brown AL, Deans AJ, Ross DM, Moore AS, Gonda TJ, Hahn CN, D'Andrea RJ.
PMID: 34521114
Blood. 2021 Dec 02;138(22):2293-2298. doi: 10.1182/blood.2021012666.

No abstract available.

Effectiveness of a novel mobile health (Peek) and education intervention on spectacle wear amongst children in India: Results from a randomized superiority trial in India.

EClinicalMedicine

Morjaria P, Bastawrous A, Murthy GVS, Evans J, Sagar MJ, Pallepogula DR, Viswanath K, Gilbert C.
PMID: 33294811
EClinicalMedicine. 2020 Oct 17;28:100594. doi: 10.1016/j.eclinm.2020.100594. eCollection 2020 Nov.

BACKGROUND: Uncorrected refractive errors can be corrected by spectacles which improve visual functioning, academic performance and quality of life. However, spectacle wear can be low due to teasing/bullying, parental disapproval and no perceived benefit.Hypothesis: higher proportion of children with...

Sharp and fully loaded: 3D tissue reconstruction reveals how snake fangs stay deadly during fang replacement.

Journal of anatomy

Cleuren SGC, Parker WMG, Richards HL, Hocking DP, Evans AR.
PMID: 34346066
J Anat. 2022 Jan;240(1):1-10. doi: 10.1111/joa.13531. Epub 2021 Aug 03.

Snake venom is produced, transported and delivered by the sophisticated venom delivery system (VDS). When snakes bite, the venom travels from the venom gland through the venom duct into needle-like fangs that inject it into their prey. To counteract...

Hibernating brown bears are protected against atherogenic dyslipidemia.

Scientific reports

Giroud S, Chery I, Arrivé M, Prost M, Zumsteg J, Heintz D, Evans AL, Gauquelin-Koch G, Arnemo JM, Swenson JE, Lefai E, Bertile F, Simon C, Blanc S.
PMID: 34548543
Sci Rep. 2021 Sep 21;11(1):18723. doi: 10.1038/s41598-021-98085-7.

To investigate mechanisms by which hibernators avoid atherogenic hyperlipidemia during hibernation, we assessed lipoprotein and cholesterol metabolisms of free-ranging Scandinavian brown bears (Ursus arctos). In winter- and summer-captured bears, we measured lipoprotein sizes and sub-classes, triglyceride-related plasma-enzyme activities, and...

Faculty Vitality-Surviving the Challenges Facing Academic Health Centers: A National Survey of Medical Faculty.

Pololi LH, Civian JT, Brennan RT, Evans AT, Gibbs BK, Gillum LH, Coplit LD.
UIID-AD: 3084
2015; doi: 10.1097/acm.0000000000000674.

PURPOSE: Faculty with high vitality are essential to the missions of academic health centers (AHCs). Because little is known about how to measure or enhance faculty vitality, the authors assessed current faculty vitality and identified its predictors. METHOD: In...

The Experience of Minority Faculty Who Are Underrepresented in Medicine, at 26 Representative US Medical Schools.

Krupat E, Pololi LH, Civian JT, Brennan RT, Evans AT, Gibbs BK.
UIID-AD: 587
2013;88:1308-1314. doi: 10.1097/ACM.0b013e31829eefff.

Purpose A diverse medical school faculty is critical to preparing physicians to provide quality care to an increasingly diverse nation. The authors sought to compare experiences of underrepresented in medicine minority (URMM) faculty with those of non-URMM faculty in...

Are Researcher Development Interventions, Alone or in Any Combination, Effective in Improving Researcher Behavior? A Systematic Review.

Mazmanian PE, Coe AB, Evans JA, Longo DR, Wright BA.
UIID-AD: 264
2014;37:114-139.

No abstract available.

Showing 2521 to 2530 of 2530 entries