日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40

与伴侣蛋白环孢亲和素40的致病性变异相关的口吃

Morgan, Angela T; Scerri, Thomas S; Vogel, Adam P; Reid, Christopher A; Quach, Mara; Jackson, Victoria E; McKenzie, Chaseley; Burrows, Emma L; Bennett, Mark F; Turner, Samantha J; Reilly, Sheena; Horton, Sarah E; Block, Susan; Kefalianos, Elaina; Frigerio-Domingues, Carlos; Sainz, Eduardo; Rigbye, Kristin A; Featherby, Travis J; Richards, Kay L; Kueh, Andrew; Herold, Marco J; Corbett, Mark A; Gecz, Jozef; Helbig, Ingo; Thompson-Lake, Daisy G Y; Liégeois, Frédérique J; Morell, Robert J; Hung, Andrew; Drayna, Dennis; Scheffer, Ingrid E; Wright, David K; Bahlo, Melanie; Hildebrand, Michael S

Exploring UK medical school differences: the MedDifs study of selection, teaching, student and F1 perceptions, postgraduate outcomes and fitness to practise

探索英国医学院的差异:MedDifs 研究涵盖选拔、教学、学生和 F1 医生的认知、研究生毕业成果以及执业能力

McManus, I C; Harborne, Andrew Christopher; Horsfall, Hugo Layard; Joseph, Tobin; Smith, Daniel T; Marshall-Andon, Tess; Samuels, Ryan; Kearsley, Joshua William; Abbas, Nadine; Baig, Hassan; Beecham, Joseph; Benons, Natasha; Caird, Charlie; Clark, Ryan; Cope, Thomas; Coultas, James; Debenham, Luke; Douglas, Sarah; Eldridge, Jack; Hughes-Gooding, Thomas; Jakubowska, Agnieszka; Jones, Oliver; Lancaster, Eve; MacMillan, Calum; McAllister, Ross; Merzougui, Wassim; Phillips, Ben; Phillips, Simon; Risk, Omar; Sage, Adam; Sooltangos, Aisha; Spencer, Robert; Tajbakhsh, Roxanne; Adesalu, Oluseyi; Aganin, Ivan; Ahmed, Ammar; Aiken, Katherine; Akeredolu, Alimatu-Sadia; Alam, Ibrahim; Ali, Aamna; Anderson, Richard; Ang, Jia Jun; Anis, Fady Sameh; Aojula, Sonam; Arthur, Catherine; Ashby, Alena; Ashraf, Ahmed; Aspinall, Emma; Awad, Mark; Yahaya, Abdul-Muiz Azri; Badhrinarayanan, Shreya; Bandyopadhyay, Soham; Barnes, Sam; Bassey-Duke, Daisy; Boreham, Charlotte; Braine, Rebecca; Brandreth, Joseph; Carrington, Zoe; Cashin, Zoe; Chatterjee, Shaunak; Chawla, Mehar; Chean, Chung Shen; Clements, Chris; Clough, Richard; Coulthurst, Jessica; Curry, Liam; Daniels, Vinnie Christine; Davies, Simon; Davis, Rebecca; De Waal, Hanelie; Desai, Nasreen; Douglas, Hannah; Druce, James; Ejamike, Lady-Namera; Esere, Meron; Eyre, Alex; Fazmin, Ibrahim Talal; Fitzgerald-Smith, Sophia; Ford, Verity; Freeston, Sarah; Garnett, Katherine; General, Whitney; Gilbert, Helen; Gowie, Zein; Grafton-Clarke, Ciaran; Gudka, Keshni; Gumber, Leher; Gupta, Rishi; Harlow, Chris; Harrington, Amy; Heaney, Adele; Ho, Wing Hang Serene; Holloway, Lucy; Hood, Christina; Houghton, Eleanor; Houshangi, Saba; Howard, Emma; Human, Benjamin; Hunter, Harriet; Hussain, Ifrah; Hussain, Sami; Jackson-Taylor, Richard Thomas; Jacob-Ramsdale, Bronwen; Janjuha, Ryan; Jawad, Saleh; Jelani, Muzzamil; Johnston, David; Jones, Mike; Kalidindi, Sadhana; Kalsi, Savraj; Kalyanasundaram, Asanish; Kane, Anna; Kaur, Sahaj; Al-Othman, Othman Khaled; Khan, Qaisar; Khullar, Sajan; Kirkland, Priscilla; Lawrence-Smith, Hannah; Leeson, Charlotte; Lenaerts, Julius Elisabeth Richard; Long, Kerry; Lubbock, Simon; Burrell, Jamie Mac Donald; Maguire, Rachel; Mahendran, Praveen; Majeed, Saad; Malhotra, Prabhjot Singh; Mandagere, Vinay; Mantelakis, Angelos; McGovern, Sophie; Mosuro, Anjola; Moxley, Adam; Mustoe, Sophie; Myers, Sam; Nadeem, Kiran; Nasseri, Reza; Newman, Tom; Nzewi, Richard; Ogborne, Rosalie; Omatseye, Joyce; Paddock, Sophie; Parkin, James; Patel, Mohit; Pawar, Sohini; Pearce, Stuart; Penrice, Samuel; Purdy, Julian; Ramjan, Raisa; Randhawa, Ratan; Rasul, Usman; Raymond-Taggert, Elliot; Razey, Rebecca; Razzaghi, Carmel; Reel, Eimear; Revell, Elliot John; Rigbye, Joanna; Rotimi, Oloruntobi; Said, Abdelrahman; Sanders, Emma; Sangal, Pranoy; Grandal, Nora Sangvik; Shah, Aadam; Shah, Rahul Atul; Shotton, Oliver; Sims, Daniel; Smart, Katie; Smith, Martha Amy; Smith, Nick; Sopian, Aninditya Salma; South, Matthew; Speller, Jessica; Syer, Tom J; Ta, Ngan Hong; Tadross, Daniel; Thompson, Benjamin; Trevett, Jess; Tyler, Matthew; Ullah, Roshan; Utukuri, Mrudula; Vadera, Shree; Van Den Tooren, Harriet; Venturini, Sara; Vijayakumar, Aradhya; Vine, Melanie; Wellbelove, Zoe; Wittner, Liora; Yong, Geoffrey Hong Kiat; Ziyada, Farris; Devine, Oliver Patrick

The Analysis of Teaching of Medical Schools (AToMS) survey: an analysis of 47,258 timetabled teaching events in 25 UK medical schools relating to timing, duration, teaching formats, teaching content, and problem-based learning

医学院教学分析(AToMS)调查:对英国25所医学院的47258个已安排的教学活动进行分析,分析内容包括时间安排、时长、教学形式、教学内容和基于问题的学习。

Devine, Oliver Patrick; Harborne, Andrew Christopher; Horsfall, Hugo Layard; Joseph, Tobin; Marshall-Andon, Tess; Samuels, Ryan; Kearsley, Joshua William; Abbas, Nadine; Baig, Hassan; Beecham, Joseph; Benons, Natasha; Caird, Charlie; Clark, Ryan; Cope, Thomas; Coultas, James; Debenham, Luke; Douglas, Sarah; Eldridge, Jack; Hughes-Gooding, Thomas; Jakubowska, Agnieszka; Jones, Oliver; Lancaster, Eve; MacMillan, Calum; McAllister, Ross; Merzougui, Wassim; Phillips, Ben; Phillips, Simon; Risk, Omar; Sage, Adam; Sooltangos, Aisha; Spencer, Robert; Tajbakhsh, Roxanne; Adesalu, Oluseyi; Aganin, Ivan; Ahmed, Ammar; Aiken, Katherine; Akeredolu, Alimatu-Sadia; Alam, Ibrahim; Ali, Aamna; Anderson, Richard; Ang, Jia Jun; Anis, Fady Sameh; Aojula, Sonam; Arthur, Catherine; Ashby, Alena; Ashraf, Ahmed; Aspinall, Emma; Awad, Mark; Yahaya, Abdul-Muiz Azri; Badhrinarayanan, Shreya; Bandyopadhyay, Soham; Barnes, Sam; Bassey-Duke, Daisy; Boreham, Charlotte; Braine, Rebecca; Brandreth, Joseph; Carrington, Zoe; Cashin, Zoe; Chatterjee, Shaunak; Chawla, Mehar; Chean, Chung Shen; Clements, Chris; Clough, Richard; Coulthurst, Jessica; Curry, Liam; Daniels, Vinnie Christine; Davies, Simon; Davis, Rebecca; De Waal, Hanelie; Desai, Nasreen; Douglas, Hannah; Druce, James; Ejamike, Lady-Namera; Esere, Meron; Eyre, Alex; Fazmin, Ibrahim Talal; Fitzgerald-Smith, Sophia; Ford, Verity; Freeston, Sarah; Garnett, Katherine; General, Whitney; Gilbert, Helen; Gowie, Zein; Grafton-Clarke, Ciaran; Gudka, Keshni; Gumber, Leher; Gupta, Rishi; Harlow, Chris; Harrington, Amy; Heaney, Adele; Ho, Wing Hang Serene; Holloway, Lucy; Hood, Christina; Houghton, Eleanor; Houshangi, Saba; Howard, Emma; Human, Benjamin; Hunter, Harriet; Hussain, Ifrah; Hussain, Sami; Jackson-Taylor, Richard Thomas; Jacob-Ramsdale, Bronwen; Janjuha, Ryan; Jawad, Saleh; Jelani, Muzzamil; Johnston, David; Jones, Mike; Kalidindi, Sadhana; Kalsi, Savraj; Kalyanasundaram, Asanish; Kane, Anna; Kaur, Sahaj; Al-Othman, Othman Khaled; Khan, Qaisar; Khullar, Sajan; Kirkland, Priscilla; Lawrence-Smith, Hannah; Leeson, Charlotte; Lenaerts, Julius Elisabeth Richard; Long, Kerry; Lubbock, Simon; Burrell, Jamie Mac Donald; Maguire, Rachel; Mahendran, Praveen; Majeed, Saad; Malhotra, Prabhjot Singh; Mandagere, Vinay; Mantelakis, Angelos; McGovern, Sophie; Mosuro, Anjola; Moxley, Adam; Mustoe, Sophie; Myers, Sam; Nadeem, Kiran; Nasseri, Reza; Newman, Tom; Nzewi, Richard; Ogborne, Rosalie; Omatseye, Joyce; Paddock, Sophie; Parkin, James; Patel, Mohit; Pawar, Sohini; Pearce, Stuart; Penrice, Samuel; Purdy, Julian; Ramjan, Raisa; Randhawa, Ratan; Rasul, Usman; Raymond-Taggert, Elliot; Razey, Rebecca; Razzaghi, Carmel; Reel, Eimear; Revell, Elliot John; Rigbye, Joanna; Rotimi, Oloruntobi; Said, Abdelrahman; Sanders, Emma; Sangal, Pranoy; Grandal, Nora Sangvik; Shah, Aadam; Shah, Rahul Atul; Shotton, Oliver; Sims, Daniel; Smart, Katie; Smith, Martha Amy; Smith, Nick; Sopian, Aninditya Salma; South, Matthew; Speller, Jessica; Syer, Tom J; Ta, Ngan Hong; Tadross, Daniel; Thompson, Benjamin; Trevett, Jess; Tyler, Matthew; Ullah, Roshan; Utukuri, Mrudula; Vadera, Shree; Van Den Tooren, Harriet; Venturini, Sara; Vijayakumar, Aradhya; Vine, Melanie; Wellbelove, Zoe; Wittner, Liora; Yong, Geoffrey Hong Kiat; Ziyada, Farris; McManus, I C

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

ZNF142基因的隐性变异会导致一种复杂的神经发育障碍,伴有智力障碍、语言障碍、癫痫和肌张力障碍。

Khan, Kamal; Zech, Michael; Morgan, Angela T; Amor, David J; Skorvanek, Matej; Khan, Tahir N; Hildebrand, Michael S; Jackson, Victoria E; Scerri, Thomas S; Coleman, Matthew; Rigbye, Kristin A; Scheffer, Ingrid E; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D; Berutti, Riccardo; Havránková, Petra; Fečíková, Anna; Strom, Tim M; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R; Baig, Shahid M; Jech, Robert; Davis, Erica E; Katsanis, Nicholas; Winkelmann, Juliane