79 research outputs found
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844â848
- Author
- Balasubramanian M. (Meena)
- Barnett C.P. (Christopher P.)
- Becker T.A. (Troy A.)
- Ben-Shachar S. (Shay)
- Bertola D.R. (DĂ©bora Romeo)
- Blakeley J.O. (Jaishri O.)
- Burkitt-Wright E.M.M. (Emma M.M.)
- Callaway A. (Alison)
- Callens T. (Tom)
- Chen Y. (Yunjia)
- Chen Z. (Zhenbin)
- Claes K. (Kathleen)
- Crenshaw M. (Melissa)
- Cunha K.S. (Karin S.)
- Cunningham M. (Mitch)
- D'Agostino M.D. (Maria Daniela)
- Dahan K. (Karin)
- De Luca A. (Alessandro)
- Destrée A. (Anne)
- Dhamija R. (Radhika)
- Eoli M. (Marica)
- Evans D.G.R. (D. Gareth R.)
- Galvin-Parton P. (Patricia)
- George-Abraham J.K. (Jaya K.)
- Gomes A. (Alicia)
- Gripp K.W. (Karen)
- Guevara-Campos J. (Jose)
- Hanchard N.A. (Neil A.)
- HernĂĄndez-Chico C. (Concepcion)
- Hsiao M.-C. (Meng-Chang)
- Immken L. (LaDonna)
- Janssens S. (Sandra)
- Johnson S. (Sherrell)
- Jones K.J. (Kristi)
- Keena B.A. (Beth A.)
- Kochhar A. (Aaina)
- Koczkowska M. (Magdalena)
- Korf B. (Bruce)
- Legius E. (Eric)
- Liebelt J. (Jan)
- Mahoney M.J. (Maurice J.)
- Martin Y. (Yolanda)
- Martir-Negron A. (Arelis)
- Maystadt I. (Isabelle)
- McDougall C. (Carey)
- McEntagart M. (Meriel)
- Mendelsohn N.J.
- Messiaen L.M. (Ludwine)
- Miller D.T. (David T.)
- Mortier G. (Geert)
- Morton J. (Jenny)
- Pappas J. (John)
- Plotkin S.R. (Scott R.)
- Pond D. (Dinel)
- Rosenbaum K. (Kenneth)
- Rubin K. (Karol)
- Russell L. (Laura)
- Rutledge L.S. (Lane S.)
- Saletti V. (Veronica)
- Schonberg R. (Rhonda)
- Schreiber A. (Allison)
- Seidel M. (Meredith)
- Sharp A. (Angela)
- Siqveland E. (Elizabeth)
- Stockton D.W. (David)
- Thornton A.S. (Andrew)
- Trevisson E. (Eva)
- Ullrich N.J. (Nicole J.)
- Upadhyaya M. (Meena)
- Verhelst H. (H.)
- Wallace M.R. (Margaret)
- Yap Y.-S. (Yoon-Sim)
- Zackai E. (Elaine)
- Zonana J. (Jonathan)
- Zurcher V. (Vickie)
- Publication venue
- 'Elsevier BV'
- Publication date
- 04/01/2018
- Field of study
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000â3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codonsâLeu844, Cys845, Ala846, Leu847, and Gly848âlocated in the cysteine-serine-rich domain (CSRD). Collectively, these recurrent missense mutations affect âŒ0.8% of unrelated NF1 mutation-positive probands in the University of Alabama at Birmingham (UAB) cohort. Major superficial plexiform neurofibromas and symptomatic spinal neurofibromas were more prevalent in these individuals compared with classic NF1-affected cohorts (both p < 0.0001). Nearly half of the individuals had symptomatic or asymptomatic optic pathway gliomas and/or skeletal abnormalities. Additionally, variants in this region seem to confer a high predisposition to develop malignancies compared with the general NF1-affected population (p = 0.0061). Our results demonstrate that these NF1 missense mutations, although located outside the GAP-related domain, may be an important risk factor for a severe presentation. A genotype-phenotype correlation at the NF1 region 844â848 exists and will be valuable in the management and genetic counseling of a significant number of individuals
Riociguat treatment in patients with chronic thromboembolic pulmonary hypertension: Final safety data from the EXPERT registry
- Author
- Abdelsayed A.A. (Abeer Abeer)
- Acosta A. (Adriana)
- Adams H. (Heath)
- Agostinho J. (JoĂŁo)
- Agostoni P. (Piergiuseppe)
- AirĂČ E. (Edoardo)
- Al Dalaan A. (Abdullah)
- Alexandre M. (Myriam)
- Alexeeva D.E. (Dalyana Eduardovna)
- Alfetlawi M. (Monthir)
- Almagro R.M. (RaĂșl Menor)
- Alonso L.P. (Lecue Pilar)
- Altraja A. (Alan)
- Andreassen A.K. (Arne K.)
- Anton L. (Ly)
- Argiento P. (Paola)
- Arjona J.J. (Josefa Jiménez)
- Asencio I. (Isabel)
- Atas H. (Halil)
- Avdeev S.N. (Sergey Nikolaevich)
- Avilés F.F. (Francisco Fernandez)
- Badagliacca R. (Roberto)
- Baptista R. (Rui)
- BarberĂĄ J.A. (Joan A.)
- Barry L. (Lisa)
- Bartfay S.-E. (Sven-Erik)
- Batalina M.V. (Marina Vadimovna)
- Bauleo C. (Carolina)
- Blanco I. (Isabel)
- Bohacekova M. (Marcela)
- Boogaard H. (H.)
- Boomars K.A.T. (Karin)
- Boonstra A. (Anco)
- Bosio M. (Martin)
- Bruno N. (Noemi)
- Bukatova I.F. (Irina Fedorovna)
- Camacho R.C. (Rafael Conde)
- Campo F. (Felipe)
- Caneva J. (Jorge)
- Capinha M. (Marta)
- Cardoso T. (Tania)
- Castro G. (Graça)
- Cheng C.-C. (Chin-Chang)
- Chu C.Y. (Chun Yuan)
- Church C. (Colin)
- CifriĂĄn MartĂnez J.M. (JosĂ© Manuel)
- Conte L. (Luca)
- Correra A. (Anna)
- Corris P. (Paul)
- Costa S. (Serena)
- Cottin V. (Vincent)
- Coutinho D. (Daniel)
- Cresci C. (Chiara)
- Cuesta V.M. (Victor Mora)
- CĂĄrdenas S.L. (Salvador LĂłpez)
- D'Alto M. (Michele)
- D'Armini A.M. (Andrea Maria)
- De La Pava S. (Sebastian)
- De Luca A. (Anna)
- De Pauw M. (Michel)
- Delcroix M. (Marion)
- Deleo S. (Sabino)
- Di Marco G.M. (Giovanni Maria)
- Diez M. (Mirta)
- Dwyer N. (Nathan)
- Egenlauf B. (Benjamin)
- Elias T. (Teresa)
- Escribano SubĂas P. (Pilar)
- Espinha M. (Mafalda)
- Evrard P. (Patrick)
- Ewert R. (Ralf)
- Fanaridis M. (Michail)
- Farina S. (Stefania)
- Farkasova I. (Iveta)
- Farruggio S. (Silvia)
- Feenstra J. (John)
- Feistmantl L.-T. (Lisa-Theresa)
- Fernandez D.I. (David Iturbe)
- Filippov E.V. (Evgeny Vladimirovich)
- Fong M.-C. (Man-Cai)
- Gaine S. (Sean)
- Galgano G. (Giuseppe)
- Gall H. (Henning)
- Galyavich A.S. (Albert Sarvatovich)
- Garcea A. (Alessio)
- Garcia A. (Alberto)
- Garcia P. (Paula)
- GarcĂa S.A. (Salvador Alcaraz)
- Gasche-Soccal P. (Paola)
- Georgopoulos D. (Dimitrios)
- Gerhardt F. (Felix)
- Ghofrani H.A.
- Giannakoulas G. (George)
- Gomez Sanchez M.-A. (Miguel-Angel)
- Gomez J.E. (Juan Esteban)
- Grazioli V. (Valentina)
- Grimminger J. (Jan)
- Gruenberger M. (Margarethe)
- GrĂŒnig E. (Ekkehard)
- Guiot J. (Julien)
- Halank M. (Michael)
- Hanta I. (Ismail)
- Harbaum L. (Lars)
- Hegya D.V. (Daria Viktorovna)
- Helmersen D.S. (Douglas S.)
- Ho W.-J. (Wan-Jing)
- Hoeper M.M. (Marius M.)
- Hsu C.-H. (Chih-Hsin)
- Hsu P.-C. (Po-Chao)
- Hsu T.-S. (Tsu-Shiu)
- Huang C.-L. (Chien-Lung)
- Huang W.-C. (Wei-Chun)
- Huang W.-P. (Wen-Pin)
- Huber C. (Charlotte)
- Humbert M.
- Hung C.-S. (Chi-Sheng)
- Ivanov K.I. (Kyundyul Ivanovich)
- Jansa P. (Pavel)
- Jara L. (Luis)
- Karvounis H.I.
- Keogh A. (Anne)
- Klose H. (Hans)
- Klotsche J. (Jens)
- Knoop-Busch S. (Susanne)
- Kolomeytseva T.M. (Tatyana Mikhaylovna)
- Konstantinides S. (Stavros)
- Kotlyar E. (Eugene)
- Kotsia A. (Anna)
- Kramer T. (Tilmann)
- Kulka C. (Christine)
- Kuo P.-H. (Ping-Hung)
- Kuo S.-H. (Shu-Hung)
- Lador F. (Frédéric)
- Lai W.-T. (Wen-Ter)
- Lang I. (Irene)
- Lange T.J. (Tobias J.)
- Langleben D. (David)
- Lavender M. (Melanie)
- Lema C. (Camila)
- Lin J.-L. (Jiunn-Lee)
- Lin T.-H. (Tsung-Hsien)
- Lin Y.-H. (Yen-Hung)
- Lombardi F. (Francesco)
- Londoño A. (Alejandro)
- Lopez M. (Manuel)
- Lopez R. (Raquel)
- Louis R. (Renaud)
- Loureiro M.J. (Maria José)
- Lunardi C. (Claudio)
- Löffler-Ragg J. (Judith)
- Mackenzie M. (Michele)
- Mager J. (J.)
- Maldonado L. (Lorena)
- Manzi G. (Giovanna)
- Marinho A. (AntĂłnio)
- Marrero F.L. (Fernando LeĂłn)
- Martinez W. (William)
- Martinez-Meñaca A. (Amaya)
- Martins Jesus S.M. (Susana Maria)
- Martynyuk T.V. (Tamila Vitalievna)
- Massola G. (Giulia)
- Mehta S. (Sanjay)
- Meier C. (Christian)
- Melatini L. (Luciano)
- Mellemkjaer S. (Soren)
- Michalis L.K. (Lampros)
- Mielniczuk L.M. (Lisa M.)
- Minson R. (Robert)
- Mitrouska I. (Ioanna)
- Mouratoglou S. (Sofia)
- MulĂš M. (Massimiliano)
- Mutlu B. (BĂŒlent)
- Naldi M. (Marco)
- Ndreu R. (Rudina)
- Newnham M. (Michael)
- Ng B. (Benjamin)
- Nielsen-Kudsk J.E. (Jens Erik)
- Nikolaevich B.A. (Bykov Aleksander)
- Nolde A. (Anna)
- Noël-Savina E. (Elise)
- Okumus G. (Gulfer)
- Oliveira A. (Ana)
- Olzik I. (Ilona)
- Ongen G. (Gul)
- Oqueka T. (Tim)
- Orozco-Levi M. (Mauricio)
- Otero R. (Remedios)
- Paciocco G. (Giuseppe)
- Pane F. (Federico)
- Pappas A. (Athanasios)
- Pappas K. (Konstantinos)
- Pavlickova I. (Ivana)
- Pavlova O.B. (Olga Borisovna)
- Peacock A. (Andrew)
- Pepke-Zaba J. (Joanna)
- Pesci A. (Alberto)
- Petruzzi M. (Mario)
- Peñate G.P. (Gregorio Pérez)
- Picariello C. (Claudio)
- Piccari L. (Lucilla)
- Pin M. (Maurizio)
- Pitsiou G. (Georgia)
- Pittrow D. (David)
- Platonov D.Y. (Dmitry Yurievich)
- Poscia R. (Roberto)
- Prediletto R. (Renato)
- Proudman S. (Susanna)
- Quezada C.A. (Carlos Andres)
- Reesink H.J. (Herre)
- Reeves G. (Glenn)
- Regotta S. (Sabine)
- Repolho D. (DĂ©bora)
- Rocha A. (Andreia)
- Rochat T. (Thierry)
- RodrĂguez P.V. (Patricia Villanueva)
- Roman A. (Antonio)
- Roncon L. (Loris)
- Rosenkranz S. (Stephan)
- Rozas S.F. (Sonia Fernandez)
- Rundqvist B. (Bengt)
- Sadushi-Kolici R. (Roela)
- Sakkijha H. (Hussam)
- Saleemi S. (Sarferaz)
- Sardella L. (Luca)
- Schulz C. (Christian)
- Schwarz E.I. (Esther Irene)
- Sciortino A. (Antonio)
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- Shearman N. (Nicole)
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- Snijder R.
- Sourla E. (Evdokia)
- Sousa J. (Joana)
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- Steringer-Mascherbauer R. (Regina)
- Stevens W. (Wendy)
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- Talavera M.L. (Maria Lujan)
- Tania G. (Gonçalves)
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- Torricelli E. (Elena)
- Toshner M. (Mark)
- Tovar P.P. (Patricia Parada)
- Tregubova A.V. (Anna Viktorovna)
- Tsangaris I. (Iraklis)
- Tsareva N.A. (Natalia Anatolievna)
- Tuhay G. (Graciela)
- TĂȘtu L. (Laurent)
- Ulrich S. (Silvia)
- Un Z. (Zeynep)
- Vachiéry J.-L. (Jean-Luc)
- Valkovicova T. (Tatiana)
- Vannucchi V. (Vieri)
- Vasankari T. (Tuija)
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- Vizza C.D. (Carmine Dario)
- Vonk Noordegraaf A. (Anton)
- Voon W.-C. (Wen-Chol)
- Vulcano N. (Norberto)
- Wang W.-H. (Wen-Hwa)
- Weheba I. (Ihab)
- Williams E. (Evgenia)
- Wirtz G. (Gil)
- Wirtz H. (Hubert)
- Wodlin P. (Peter)
- Wu C.-K. (Cho-Kai)
- Wu S.-H. (Shu-Hao)
- Yakovleva O.E. (Olga Eduardovna)
- Yen H.-W. (Hsueh-Wei)
- Yih-Jer Wu J. (Jacob)
- Yotti R. (Raquel)
- Zvereva T.N. (Tatyana Nikolaevna)
- Ć imkovĂĄ I. (Iveta)
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/03/2021
- Field of study
Objective: The soluble guanylate cyclase stimulator riociguat is approved for the treatment of adult patients with pulmonary arterial hypertension (PAH) and inoperable or persistent/recurrent chronic thromboembolic pulmonary hypertension (CTEPH) following Phase
A joint Fermi-GBM and Swift-BAT analysis of gravitational-wave candidates from the third gravitational-wave observing run
- Author
- Abbott R.
- Abe H.
- Acernese F.
- Ackley K.
- Adhikari N.
- Adhikari R.X.
- Adkins V.K.
- Adya V.B.
- Affeldt C.
- Agarwal D.
- Agathos M.
- Agatsuma K.
- Aggarwal N.
- Aguiar O.D.
- Aiello L.
- Ain A.
- Ajith P.
- Akutsu T.
- Albanesi S.
- Alfaidi R.A.
- Allocca A.
- Altin P.A.
- Amato A.
- Anand C.
- Anand S.
- Ananyeva A.
- Anderson S.B.
- Anderson W.G.
- Ando M.
- Andrade T.
- Andres N.
- AndriÄ T.
- Andrés-Carcasona M.
- Angelova S.V.
- Ansoldi S.
- Antelis J.M.
- Antier S.
- Apostolatos T.
- Appavuravther E.Z.
- Appert S.
- Apple S.K.
- Arai K.
- Araya A.
- Araya M.C.
- Areeda J.S.
- Arellano F.E.P.
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- Arogeti M.
- Aronson S.M.
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- Zweizig J.
- Publication venue
- American Astronomical Society
- Publication date
- 01/04/2024
- Field of study
We present Fermi Gamma-ray Burst Monitor (Fermi-GBM) and Swift Burst Alert Telescope (Swift-BAT) searches for gamma-ray/X-ray counterparts to gravitational-wave (GW) candidate events identified during the third observing run of the Advanced LIGO and Advanced Virgo detectors. Using Fermi-GBM onboard triggers and subthreshold gamma-ray burst (GRB) candidates found in the Fermi-GBM ground analyses, the Targeted Search and the Untargeted Search, we investigate whether there are any coincident GRBs associated with the GWs. We also search the Swift-BAT rate data around the GW times to determine whether a GRB counterpart is present. No counterparts are found. Using both the Fermi-GBM Targeted Search and the Swift-BAT search, we calculate flux upper limits and present joint upper limits on the gamma-ray luminosity of each GW. Given these limits, we constrain theoretical models for the emission of gamma rays from binary black hole mergers
Search for gravitational-wave transients associated with magnetar bursts in advanced LIGO and advanced Virgo data from the third observing run
- Author
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- Abe H
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- Yeh S.-W
- Yelikar A.B
- Ying M
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- Yokozawa T
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- Zhu Z.-H
- Zucker M.E
- Zweizig J
- Publication venue
- American Astronomical Society
- Publication date
- 01/01/2024
- Field of study
Gravitational waves are expected to be produced from neutron star oscillations associated with magnetar giant f lares and short bursts. We present the results of a search for short-duration (milliseconds to seconds) and longduration (âŒ100 s) transient gravitational waves from 13 magnetar short bursts observed during Advanced LIGO, Advanced Virgo, and KAGRAâs third observation run. These 13 bursts come from two magnetars, SGR1935 +2154 and SwiftJ1818.0â1607. We also include three other electromagnetic burst events detected by FermiGBM which were identified as likely coming from one or more magnetars, but they have no association with a known magnetar. No magnetar giant flares were detected during the analysis period. We find no evidence of gravitational waves associated with any of these 16 bursts. We place upper limits on the rms of the integrated incident gravitational-wave strain that reach 3.6 Ă 10âÂČÂł Hz at 100 Hz for the short-duration search and 1.1 Ă10âÂČÂČ Hz at 450 Hz for the long-duration search. For a ringdown signal at 1590 Hz targeted by the short-duration search the limit is set to 2.3 Ă 10âÂČÂČ Hz. Using the estimated distance to each magnetar, we derive upper limits upper limits on the emitted gravitational-wave energy of 1.5 Ă 1044 erg (1.0 Ă 1044 erg) for SGR 1935+2154 and 9.4 Ă 10^43 erg (1.3 Ă 1044 erg) for Swift J1818.0â1607, for the short-duration (long-duration) search. Assuming isotropic emission of electromagnetic radiation of the burst ïŹuences, we constrain the ratio of gravitational-wave energy to electromagnetic energy for bursts from SGR 1935+2154 with the available ïŹuence information. The lowest of these ratios is 4.5 Ă 103
Constraints on the cosmic expansion history from GWTCâ3
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- Abbott R.
- Abe H.
- Acernese F.
- Ackley K.
- Adhikari N.
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- Publication venue
- 'American Astronomical Society'
- Publication date
- 01/06/2023
- Field of study
We use 47 gravitational wave sources from the Third LIGOâVirgoâKamioka Gravitational Wave Detector Gravitational Wave Transient Catalog (GWTCâ3) to estimate the Hubble parameter H(z), including its current value, the Hubble constant H0. Each gravitational wave (GW) signal provides the luminosity distance to the source, and we estimate the corresponding redshift using two methods: the redshifted masses and a galaxy catalog. Using the binary black hole (BBH) redshifted masses, we simultaneously infer the source mass distribution and H(z). The source mass distribution displays a peak around 34 Mâ, followed by a drop-off. Assuming this mass scale does not evolve with the redshift results in a H(z) measurement, yielding H0â=68â8+12âkm  sâ1Mpcâ1 (68% credible interval) when combined with the H0 measurement from GW170817 and its electromagnetic counterpart. This represents an improvement of 17% with respect to the H0 estimate from GWTCâ1. The second method associates each GW event with its probable host galaxy in the catalog GLADE+, statistically marginalizing over the redshifts of each event's potential hosts. Assuming a fixed BBH population, we estimate a value of H0â=68â6+8âkm  sâ1Mpcâ1 with the galaxy catalog method, an improvement of 42% with respect to our GWTCâ1 result and 20% with respect to recent H0 studies using GWTCâ2 events. However, we show that this result is strongly impacted by assumptions about the BBH source mass distribution; the only event which is not strongly impacted by such assumptions (and is thus informative about H0) is the well-localized event GW190814
Acute exposure to pulsed microwaves affects neither pentylenetetrazol seizures in the rat nor chlordiazepoxide protection against such seizures
- Publication venue
- Publication date
- 01/12/1983
- Field of study
Arthroscopic Lateral Retinacular-Lengthening Procedure
- Author
- Publication venue
- Elsevier
- Publication date
- 01/06/2024
- Field of study
Anterior knee pain is a common musculoskeletal complaint that is often due to an excessively tight lateral retinaculum, which normally plays a role in patellar tracking and stabilization. Several etiologies underlie lateral soft-tissue tightness in the knee, including lateral patellar compression syndrome, patellofemoral arthritis, patellofemoral instability, and patellofemoral pain syndrome. Stretching the lateral retinaculum through conservative treatment may be helpful, but lateral retinacular lengthening may be indicated. Since this surgical procedure has classically been performed in an open fashion, the purpose of this Technical Note is to describe an arthroscopic technique designed to limit complications, improve patient outcomes, and reduce operative and recovery times
A comparison of T2*-weighted magnitude and phase imaging for measuring the arterial input function in the rat aorta following intravenous injection of gadolinium contrast agent
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/06/2005
- Field of study
The arterial input function (AIF) is important for quantitative MR imaging perfusion experiments employing Gd contrast agents. This study compared the accuracy of T2*-weighted magnitude and phase imaging for noninvasive measurement of the AIF in the rat aorta. Twenty-eight in vivo experiments were performed involving simultaneous arterial blood sampling and MR imaging following Gd injection. In vitro experiments were also performed to confirm the in vivo results. At 1.89 T and TE=3 ms, the relationship between changes in 1/T2* in blood (estimated from MR signal magnitude) and Gd concentration ([Gd]) was measured to be âŒ19 s-1 mM -1, while that between phase and [Gd] was âŒ0.19 rad mM -1. Both of these values are consistent with previous
Relationship of Pelvis and Upper Torso Kinematics to Pitched Baseball Velocity
- Author
- Publication venue
- 'Human Kinetics'
- Publication date
- Field of study
Preparation of Fe2O3 nanoparticles by acoustic and hydrodynamic cavitation techniques and corrosion inhibition release studies using its nanocontainers
- Author
- Publication venue
- 'Pleiades Publishing Ltd'
- Publication date
- Field of study
- âŠ