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Page 1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: almeida pm. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM; Undiagnosed Diseases Network; Yang Y, Posey JE, Lee BH. Rosenfeld JA, et al. Among authors: almeida pm. Am J Med Genet A. 2021 Jul;185(7):2037-2045. doi: 10.1002/ajmg.a.62201. Epub 2021 Apr 13. Am J Med Genet A. 2021. PMID: 33847457
Characteristics of women diagnosed with mpox infection compared to men: A case series from Brazil.
Coutinho C, Secco Torres Silva M, Torres TS, Peixoto E, Avelar Magalhães M, Wagner Cardoso S, Nazário G, Mendonça M, Menezes M, Almeida PM, Dias de Brito de Carvalho PR, Bia Bedin S, Almeida AM, Carvalho S, Gonçalves Veloso V, Grinsztejn B, Velasque L; INI-Fiocruz Mpox Study Group. Coutinho C, et al. Among authors: almeida pm. Travel Med Infect Dis. 2023 Nov-Dec;56:102663. doi: 10.1016/j.tmaid.2023.102663. Epub 2023 Nov 8. Travel Med Infect Dis. 2023. PMID: 37949306 Free article.
Phytochemical characterization, isolation, antioxidant and cytogenotoxic activity of leaves of Heliotropium elongatum (Lehm) I.M. Johnst.
Paula Sales P, Das Dores Alves de Oliveira M, Figueiredo Watanabe JM, da Silva Barbosa AP, da Mata BCA, de Jesus E Silva Viana M, Dalia Rego Medeiros PC, Carvalho Souza D, Do Nascimento Silva J, Lima NM, da Costa Júnior JS, Alline Martins F, E Silva Filho FA, de Almeida PM. Paula Sales P, et al. Among authors: de almeida pm. J Toxicol Environ Health A. 2023 Dec 2;86(23):871-897. doi: 10.1080/15287394.2023.2254815. Epub 2023 Sep 8. J Toxicol Environ Health A. 2023. PMID: 37682045
Correction: Surgeons' perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey.
Cobianchi L, Piccolo D, Dal Mas F, Agnoletti V, Ansaloni L, Balch J, Biffl W, Butturini G, Catena F, Coccolini F, Denicolai S, De Simone B, Frigerio I, Fugazzola P, Marseglia G, Marseglia GR, Martellucci J, Modenese M, Previtali P, Ruta F, Venturi A, Kaafarani HM, Loftus TJ; Team Dynamics Study Group. Cobianchi L, et al. World J Emerg Surg. 2023 Mar 23;18(1):22. doi: 10.1186/s13017-023-00493-9. World J Emerg Surg. 2023. PMID: 36959605 Free PMC article. No abstract available.
Time for a paradigm shift in shared decision-making in trauma and emergency surgery? Results from an international survey.
Cobianchi L, Dal Mas F, Agnoletti V, Ansaloni L, Biffl W, Butturini G, Campostrini S, Catena F, Denicolai S, Fugazzola P, Martellucci J, Massaro M, Previtali P, Ruta F, Venturi A, Woltz S, Kaafarani HM, Loftus TJ; Team Dynamics Study Group. Cobianchi L, et al. World J Emerg Surg. 2023 Feb 17;18(1):14. doi: 10.1186/s13017-022-00464-6. World J Emerg Surg. 2023. PMID: 36803568 Free PMC article.
Surgeons' perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey.
Cobianchi L, Piccolo D, Dal Mas F, Agnoletti V, Ansaloni L, Balch J, Biffl W, Butturini G, Catena F, Coccolini F, Denicolai S, De Simone B, Frigerio I, Fugazzola P, Marseglia G, Marseglia GR, Martellucci J, Modenese M, Previtali P, Ruta F, Venturi A, Kaafarani HM, Loftus TJ; Team Dynamics Study Group. Cobianchi L, et al. World J Emerg Surg. 2023 Jan 3;18(1):1. doi: 10.1186/s13017-022-00467-3. World J Emerg Surg. 2023. PMID: 36597105 Free PMC article.
43 results