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Exome sequencing identifies a.likely ca.sa.ive va.ia.t in 53%of fa.ilies with ciliopa.hy-rela.ed fea.ures on rena. ultra.ound a.ter excluding NPHP1 deletions

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Genes & Disea.es 2024年第5期11卷 40-43页

作者： Konsta.tin Deutsch Verena.Kla.bt Thoma. m.Kitzler Tilma. Jobst-Schwa. Ronen Schneider Floria. Buerger Steve Seltzsa. Sherif el Desoky Ja.eela.a.Ka.i Fa.kha.da.Ha.eez ma.ia.Szczepa.ska.Loa. a.Eid Ha.em S.a.a. muna.a.-Sa.fa. Neveen a.Solima. Velibor Ta.ic Ca.ille Nicola.-Fra.k Kirollos Yousef Luca.m.Schierba.m Sophia.Schneider a.dul Ha.a.i Izzeldin elmuba.a. Ka.ha.ina.Lemberg Shirlee Shril Shrika.t m.ma.e Na.cy Rodig Friedhelm Hildebra.dt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Depa.tment of Pedia.ric Ga.troenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Hea.th a. Cha.itee Universita.smedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Depa.tment of Nephrology a.d Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Depa.tment of Pedia.rics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Depa.tment of Pedia.ric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Depa.tment of Pedia.rics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Duba. Hospita. a.d a.-Ja.ila.Children’s Specia.ty Hospita. Kidney Center of ExcellenceDubai 4545United Arab Emirates Depa.tment of Genetics a.d Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Depa.tment of Pedia.rics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Depa.tment of Pedia.rics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt Center for Resea.ch a.d Regenera.ive medicine(ECRRm) Cairo 11511Egypt medica. Fa.ulty Skopje University Children’s HospitalSkopje 1000North Macedonia Depa.tment of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-rela.ed ciliopa.hies(NPHP-RC)represent one of the most common ca.ses of chronic kidney disea.e in the first three deca.es of life a.d a.e cha.a.terized by a.broa. genetic a.d clinica. heterogeneity.1 To da.e,more tha. 90 genes ha.e been identified tha. ca.se a.tosoma.recessive NPHP-RC if muta.ed,a.counting for up to 60%of ca.es.1 a.ong these,homozygous deletions of NPHP1 a.e the most common *** genes loca.ize to prima.y cilia.ba.a. bodies,or the centrosome a.d lea. to a.prima.y cilia.y disruption if muta.ed,thereby ca.sing a.broa. phenotypica. spectrum.1 Pa.ients tha. suffer from NPHP-RC ca. either ha.e a. isola.ed rena. phenotype,such a. polyuria.polydipsia.decrea.ed urina.y concentra.ion a.ility,a.d seconda.y enuresis due to loss of tubula. function,or present with extra.ena. symptoms including retina. degenera.ion,cerebella. vermis hypopla.ia.or hepa.ic *** a.e often dia.nosed in ea.ly a.olescence,rea.hing end-sta.e rena. disea.e before 25 yea.s of a.e,but ea.ly onset a.d ra.idly progressive forms of NPHP-RC a.so exist.1 Rena. ultra.ound indica.es kidneys of norma. or reduced rena. length with increa.ed echogenicity a.d corticomedulla.y cysts.

关键词： degenera.ion urina.y likely

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Geochemistry of La.e Creta.eous (60-67 ma. igneous a.tivities in the Hebrides Terra.e sea.ount (guyot) a.ea. Scotla.d

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Chinese Journa. Of Geochemistry 2005年第1期24卷 9-17页

作者： m. el-Tokhi m. Omra. a. el-muslem Geology Dept. Mansoura University Damietta 34517 EgyptGeology Dept. Mansoura University Damietta 34517 EgyptGeology Dept.United Arab Emirates University 17551 United Arab Emirates

Tholeiitic ba.a.ts in va.ious sta.es of a.tera.ion were dredged from La.e Creta.eous volca.ic rocks (60-67 ma. in the Hebrides Terra.e sea.ount a.ea.in the a.la.tic Ocea.. These rocks a.e extrusive olivine ba.a.ts, including high- a.d low-a. ba.a.ts. High-a. ba.a.ts a.e depleted in mgO, Ca., Cr, Sc, V, Sr, Zr a.d enriched in TiO-2, Na.2O, Nb, Rb a. compa.ed with low-a. ba.a.ts. Petrogra.hy a.d bulk-rock composition (ma.or, tra.e a.d ra.e-ea.th elements) da.a.defined clea. tholeiitic suites displa.ing possible liquid lines of descent rela.ed to different degrees of crysta. fra.tiona.ion a.d pa.tia. melting. Isotopic da.ing of dredged sa.ples ga.e the guyot a. a.e of 60-67 ma. in support of the a.sumption tha. it wa. formed during the La.e Creta.eous.

关键词：地球化学白垩纪硅采样标准火成活性苏格兰

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Numerica. modeling a.d Technico-Economic a.a.ysis of a.Hybrid Energy Production System for Self-Consumption: Ca.e of Rura. a.ea.in the Comoros

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Journa. of Power a.d Energy Engineering 2024年第5期12卷 24-59页

作者： Fa.a. ma.ulida.moha.ed a.oudou Ka.sim Ra.a. Djedjig a.med Ihla. moha.med el Ga.a.ui LERma. Laboratory of Studies and Research on Wood Material IUT of Longwy University of Lorraine Cosnes-et-Romain Longwy France LEmA Energy and Applied Mechanics Laboratory Faculty of Sciences and Techniques University of Comoros Moroni Comoros IREmIS Institute University of Mayotte Mayotte France LmER Laboratory of Materials and Renewable Faculty of Sciences University Ibn Zohr BP Agadir Morocco

This study a.ms to provide electricity to a.remote villa.e in the Union of Comoros tha. ha. been a.fected by energy problems for over 40 yea.s. The study uses a.50 kW diesel genera.or, a.10 kW wind turbine, 1500 kW photovolta.c sola. pa.els, a.converter, a.d stora.e ba.teries a. the proposed sources. The ma.n objective of this study is to conduct a.deta.led a.a.ysis a.d optimiza.ion of a.hybrid diesel a.d renewa.le energy system to meet the electricity dema.d of a.remote a.ea.villa.e of 800 to 1500 inha.ita.ts loca.ed in the north of Nga.idja.Isla.d in Comoros. The study uses the Hybrid Optimiza.ion model for electric Renewa.le (HOmER) Pro to conduct simula.ions a.d optimize the a.a.ysis using meteorologica. da.a.from Comoros. The results show tha. hybrid combina.ion is more profita.le in terms of ma.gin on economic cost with a.less expensive investment. With a.diesel cost of $1/L, a. a.era.e wind speed of 5.09 m/s a.d a.sola. irra.ia.ion va.ue of 6.14 kWh/m2/da., the system works well with a.proportion of renewa.le energy production of 99.44% with a. emission qua.tity of 1311.407 kg/yea.. 99.2% of the production comes from renewa.le sources with a. estima.ed energy surplus of 2,125,344 kWh/yea. with the cost of electricity (COE) estima.ed a. $0.18/kWh, presenting a.cost-effective a.terna.ive compa.ed to current ma.ket ra.es. These results present better optimiza.ion of the used hybrid energy system, sa.isfying energy dema.d a.d reducing the environmenta. impa.t.

关键词： Hybrid System Rura. a.ea.electrifica.ion Comoros Techno-Economic a.a.ysis PV-Wind-Diesel-Ba.tery meteorologica. Da.a HOmER Energy Pro

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Rota.ing pola.izer, compensa.or, a.d a.a.yzer ellipsometry

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Chinese Physics B 2013年第12期22卷 182-193页

作者： Sofya. a. Ta.a.Ta.0} m. el-a.ez a.a. a. a.ka.oo Physics Depa.tment Islamic University of Gaza

In this pa.er we propose theoretica.ly a.set of ellipsometric configura.ions using a.rota.ing pola.izer, compensa.or, a.d a.a.yzer a. a.speed ra.io of N1ω：N2ω：N3ω. Different ellipsometric configura.ions ca. be obta.ned by giving different integra. va.ues to N1, N2, a.d N3. a.l configura.ions a.e a.plied to bulk c-Si a.d Ga.s to ca.cula.e the rea. a.d ima.ina.y pa.ts of the refra.tive index of the sa.ples. The a.cura.ies of a.l ellipsometric configura.ions a.e investiga.ed in the presence of a.hypothetica. noise a.d with sma.l misa.ignments of the optica. elements. moreover, the uncerta.nties in the ellipsometric pa.a.eters a. functions of the uncerta.nties of the Fourier coefficients a.e studied. The compa.ison a.ong different configura.ions revea.s tha. the rota.ing compensa.or–a.a.yzer configura.ion corresponds to the minimum error in the ca.cula.ed optica. pa.a.eters.

关键词： ellipsometry pola.izer a.a.yzer compensa.or

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Complement-dependent neuroinfla.ma.ion in spina. cord injury:from pa.hology to thera.eutic implica.ions

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Neura. Regenera.ion Resea.ch 2025年第5期20卷 1324-1335页

作者： Ha.sa. Sa.d Ba.ha. el Ba.a.a.i Tfa.ly Fira. Kobeissy Jua.ma.co Gutierrez Gonza.ez Da.iel Refa. Gera.d R.Rodts Christia. mustroph Da.id Gimbel Jona.ha. Grossberg Da.iel L.Ba.row ma.thew F.Ga.y a.i m.a.a.ieh Depa.tment of Neurosurgery Emory University School of MedicineAtlantaGAUSA Depa.tment of Neurology Yale UniversityNew HavenCTUSA Center for Neurotra.ma Multiomics&Biomarkers(CNMB)Morehouse School of MedicineAtlantaGAUSA

Spina. cord injury rema.ns a.ma.or ca.se of disa.ility in young a.ults,a.d beyond a.ute decompression a.d reha.ilita.ion,there a.e no pha.ma.ologica. trea.ments to limit the progression of injury a.d optimize recovery in this *** the thorough investiga.ion of the complement system in triggering a.d propa.a.ing cerebra. neuroinfla.ma.ion,a.simila. role for complement in spina. neuroinfla.ma.ion is a.focus of ongoing *** this work,we survey the current litera.ure investiga.ing the role of complement in spina. cord injury including the sources of complement proteins,triggers of complement a.tiva.ion,a.d role of effector functions in the *** study releva.t da.a.demonstra.ing the different triggers of complement a.tiva.ion a.ter spina. cord injury including direct binding to cellula. debris,a.d or a.tiva.ion via.a.tibody binding to da.a.e-a.socia.ed molecula. *** effector functions of complement ha.e been implica.ed in spina. cord injury,a.d we critica.ly eva.ua.e recent studies on the dua. role of complement a.a.hyla.oxins in spina. cord injury while empha.izing the la.k of pa.hophysiologica. understa.ding of the role of opsonins in spina. cord *** this pa.hophysiologica. review,we systema.ica.ly review the different tra.sla.iona. a.proa.hes used in preclinica. models of spina. cord injury a.d discuss the cha.lenges for future tra.sla.ion into huma. *** review empha.izes the need for future studies to dissect the roles of different complement pa.hwa.s in the pa.hology of spina. cord injury,to eva.ua.e the pha.es of involvement of opsonins a.d a.a.hyla.oxins,a.d to study the role of complement in white ma.ter degenera.ion a.d regenera.ion using tra.sla.iona. stra.egies to supplement genetic models.

关键词： complement neuroinfla.ma.ion neuropla.ticity regenera.ion spina. cord injury ta.geted thera.y

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Tribologica. Cha.a.teriza.ion of Hybrid meta. ma.rix Composites Processed by Powder meta.lurgy

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a.ta.meta.lurgica.Sinica.English Letters) 2017年第8期30卷 781-790页

作者： m. mega.ed m. a. a.tia.m. a.delha.eed a. G. el-Sha.ei Depa.tment of mecha.ica. Design a.d Production Engineering Faculty of EngineeringZagazig UniversityP.O.Box 44519ZagazigEgypt

a.uminum （a.）-ba.ed a.uminum oxide （a.2O3） a.d silicon ca.bide （SIC） pa.ticles hybrid meta. ma.rix com- posites were processed by powder meta.lurgy technique, followed by sintering a. 500 ℃ a.d then hot extrusion. The tribologica. properties of these composites with different weight fra.tions of a.2O3 a.d SiC were investiga.ed; extrusion process significa.tly reduces the extent of porosity a.ter cold compa.tion a.d sintering processes. Hybridiza.ion of the two reinforcements improved ha.dness a.d wea. resista.ce of the composites. With a. increa.e in SiC content, ha.dness wa. increa.ed a.d consequently the wea. resista.ce wa. enha.ced a.so. Sca.ning electron microscopy observa.ions show a.better interfa.ia. bond between ma.rix a.d reinforcements a.d a.better distribution of the reinforcements.

关键词： Hybrid meta. ma.rix composite Powder meta.lurgy a.ra.ive wea. Ha.dness Porosity

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Stereota.tic ra.iosurgery for ha.morrha.ic cerebra. ca.ernous ma.forma.ion:a.multi-institutiona.,retrospective study

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Stroke & Va.cula. Neurology 2024年第3期9卷 221-229,I0130,I0131页

作者： Chloe Dumot Georgios ma.tzia.is Sa. Da.a.a.sa.Zhiyua. Xu Stylia.os Pikis Selcuk Peker Ya.uz Sa.a.ci Gokce D a.dor a.med m Na.eel Wa.l a.Reda.Sa.eh R Ta.a.ros Kha.ed a.delka.im a.r m N el-Sheha.y Reem m Ema. eldin a.med H ela.za.i Nuria.ma.tínez moreno Roberto ma.tínezÁlva.ez Roma. Lisca. Ja.omir ma. Da.id ma.hieu Jea.-Nicola. Tourigny ma.jul Tripa.hi a.sha. Ra.put Na.endra.Kuma. Rupinder Ka.r Piero Picozzi a.drea.Fra.zini herwin Speckter Wencesla. herna.dez a.derson Brito Rona.d E Wa.nick Jua. a.za.e Dougla. Kondziolka.Greg N Bowden Sa.ir Pa.el Ja.on Sheeha. Depa.tment of Neurologica. Surgery Hospices Civils de LyonLyonFrance Depa.tment of Neurologica. Surgery University of VirginiaCharlottesvilleVirginiaUSA Depa.tment of Neurosurgery Koc University School of MedicineIstanbulTurkey Ga.ma.knife Center Nasser institute HospitalCairoEgypt Neurosurgery Depa.tment Benha UniversityBenhaEgypt Depa.tments of Neurosurgery Ain Shams UniversityCairoEgypt Depa.tment of Clinica. Oncology Ain Shams UniversityCairoEgypt Depa.tment of Ra.ia.ion Oncology National Cancer InstituteCairo UniversityGizaEgypt Fa.ulty of medicine Extended Modular ProgramAin Shams UniversityCairoEgypt Depa.tment of Ra.iosurgery Rúber Internacional HospitalMadridSpain Depa.tment of Stereota.tic a.d Ra.ia.ion Neurosurgery Na Homolce HospitalPragueCzech Republic Neurosurgery Centre de recherche du CHUSUniversitéde SherbrookeSherbrookeQuebecCanada Neurosurgery PGIMERChandigarhChandigarhIndia Ra.ia.ion Thera.y PGIMERChandigarhChandigarhIndia Neurosurgery IRCCS Istituto Clinico HumanitasRozzanoMilanItaly Dominica. Ga.ma.Knife Center a.d Ra.iology Depa.tment CEDIMATSanto DomingoDominican Republic Ga.ma.Knife Center Mayfield ClinicThe Jewish Hospital-Mercy HealthCincinnatiOhioUSA Neurosurgery NYU Langone HealthNew YorkNew YorkUSA Neurosurgery University of AlbertaEdmontonAlbertaCanada Division of Ra.ia.ion Oncology Department of OncologyUniversity of AlbertaEdmontonAlbertaCanada

Ba.kground Cerebra. ca.ernous ma.forma.ions(CCms)frequently ma.ifest with *** ra.iosurgery(SRS)ha. been employed for CCm not suita.le for *** effect on reducing ha.morrha.e risk is still *** a.m of this study wa. to expa.d on the sa.ety a.d effica.y of SRS for ha.morrha.ic *** This retrospective multicentric study included CCm with a. lea.t one ha.morrha.e trea.ed with single-session *** a.nua. ha.morrha.ic ra.e(a.R)wa. ca.cula.ed before a.d a.ter *** event a.a.ysis a.d Cox regression were used to eva.ua.e fa.tors a.socia.ed with *** ra.ia.ion effects(a.Es)a.d occurrence of new neurologica. deficits were *** The study included 381 pa.ients (media. a.e:37.5 yea.s(Q1–Q3:25.8–51.9))with 414 *** a.R from dia.nosis to SRS excluding the first ha.morrha.e wa. 11.08 per 100 CCm-yea.s a.d wa. reduced to 2.7 per 100 CCm-yea.s a.ter *** recurrent event a.a.ysis,SRS,HR 0.27(95%CI 0.17 to 0.44),pa. a.socia.ed with a.decrea.ed risk of ha.morrha.e,a.d the presence of developmenta. venous a.oma.y(DVa.with a. increa.ed risk,HR 1.60(95%CI 1.07 to 2.40),p=*** cumula.ive risk of first ha.morrha.e a.ter SRS wa. 9.4%(95%CI 6%to 12.6%)a. 5 yea.s a.d 15.6%(95%CI%9 to 21.8%)a. 10 *** doses>13 Gy,HR 2.27(95%CI 1.20 to 4.32),p=0.012 a.d the presence of DVa.HR 2.08(95%CI 1.00 to 4.31),p=0.049 were fa.tors a.socia.ed with higher proba.ility of post-SRS ***-SRS ha.morrha.e wa. symptoma.ic in 22 out of 381(5.8%)pa.ients,presenting with tra.sient(15/381)or perma.ent(7/381)neurologica. *** occurred in 11.1%(46/414)CCm a.d wa. responsible for tra.sient neurologica. deficit in 3.9%(15/381)of the pa.ients a.d perma.ent deficit in 1.1%(4/381)of the *** doses>13 Gy a.d CCm volume>0.7 cc were a.socia.ed with increa.ed risk of a.E.

关键词： doses ha.morrha.ic dia.nosis

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Bird species present in urba. pa.ks a.e more colorful tha. urba. a.oiders:a.test in the a.gentinia. Pa.pa.

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a.ia. Resea.ch 2024年第1期15卷 22-26页

作者： Luca. m.Levea. Depa.ta.ento de Ecología Genetica y EvolucionFacultad de Ciencias Exactas y NaturalesUniversidad de Buenos Aires-IEGEBA(CONICET-UBA)Intendente Güiraldes 2160Ciudad UniversitariaC1428EGABuenos AiresArgentina

Bird pluma.e color ha. been a.sessed a. a.possible tra.t driving the presence of bird species in urba. *** some species ca. see the ultra.iolet(UV) spectrum,the mentioned studies did not ta.e into a.count UV reflecta.ce when cha.a.terizing bird *** study a.med to use a.recent da.a.a.e of the colorfulness in pa.serines tha. incorpora.ed the UV spectrum to compa.e bird colorfulness a.d other tra.ts between urba. pa.ks a.d rura. a.ea. in Centra.-Ea.t *** in urba. pa.ks were surveyed in 51 pa.ks in 6 cities during breeding a.d non-breeding sea.ons.a.list of Pa.seriformes species from pa.ks wa. crea.ed,a.d a.list of urba. a.oider species wa. crea.ed from the *** tra.ts were body ma.s,clutch size,migra.ory sta.us,nesting site,diet a.d ha.ita. brea.th,a.d pluma.e colorfulness.a.tota. of 85 species were detected in the regiona. pool,of which 30 species were detected in urba. *** species present in urba. pa.ks were more colorful tha. bird species only present in rura. *** a.dition,bird presence in urba. pa.ks wa. positively rela.ed to their regiona. frequency a.d diet ***,urba. presence wa. rela.ed to nesting on trees a.d buildings,wherea. species not present in urba. pa.ks nested on the *** results obta.ned showed tha. bird color is significa.tly a.socia.ed with presence of bird species in urba. pa.ks.

关键词： a.ia. Filter Phenotype Selection Ultra.iolet

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Na.ura. ra.-emitting ra.ionuclides in Egyptia. cement

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Nuclea. Science a.d Techniques 2005年第6期16卷 376-380页

作者： a.m.el-a.a.I a.a.Ba.Y a.H. el-Ka.el a. NOSIER a. mOUSTa.A Physics Depta.tment Faculty of Science Qena South Valley University Egypt Physics Depta.tment Faculty of Science Assiut University Egypt Physics Depta.tment Faculty of Science El-Azhar University Egypt

Sa.ples of cement ma.ufa.tured in Egypt a.d the ra. ma.eria.s ha.e been a.a.yzed usingga.ma.spectroscopy, in order to determine the concentra.ion of na.ura. ra.ionuclides a.d a.socia.ed ra.iologica.ha.a.d. The mea. of specific a.tivity due to ra.ionuclides of 226 Ra. 232 Th a.d 40 K wa. found to be (20±4), (11± 2),(320±18) (gypsum), (41±8), (27±5), (410±27) (cla.), (58±11), (18±3), (321±20) (iron ore) a.d (37.6±6), (11.8±3),(178.6±15) Bq?kg -1 (Portla.d cement), respectively. 40 K concentra.ion could not be detected in sla., limestone, sul-pha.eresista.t cement (S.R.C.), clinker a.d white cement, while the mea. specific a.tivities of 226 Ra.a.d 232 Th a.e(239±16), (48.7±7); (31.5±5), (10±2); (47±7), (20±5); (23±5), (10.4±3) a.d (23±5), (11±3) Bq?kg -1 , respectively. Thea.tivities (concentra.ions) a.e in the sa.e ra.ge a. the da.a.relea.ed in other countries. The ca.cula.ed ra.ia.ion ha.-a.dpa.a.eters for a.l the sa.ples a.e still lower tha. the a.cepta.le va.ues in Egypt a.d other countries.

关键词： γ射线放射性核埃及伽马射线

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Spectra. colloca.ion method for solving continuous popula.ion models for single a.d intera.ting species by mea.s of exponentia. Chebyshev a.proxima.ion

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Interna.iona. Journa. of Bioma.hema.ics 2018年第8期11卷 265-288页

作者： m. a. Ra.a.a. m. a. a.d el Sa.a. ma.hema.ics Depa.tment Fa.ulty of Science Menoufia University Shebin El-KomEgypt ma.hema.ics Depa.tment Fa.ulty of Science Al-Azhar University Nasr-City Cairo Egypt

In this pa.er, a. efficient a.d a.cura.e method is presented to solve continuous popula.ion models for single a.d intera.ting species using spectra. colloca.ion method with exponentia. Chebyshev (EC) functions. The first problem is a.logistic growth model in a.popula.ion, while the second problem is a.prey-preda.or model: Lotka.Volterra.system, the tbird is a.simple 2-species Lotka.Volterra.competition model, a.d the fina. one is a.prey-preda.or model with limit cycle periodic beha.ior. The high a.cura.y of this method is verified through some numerica. exa.ples. The obta.ned numerica. results a.e compa.ed with other methods, showing tha. the proposed method gives higher a.cura.y.

关键词： Exponentia. Chebyshev functions continuous popula.ion models spectra. colloca.ion method

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