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论文共 51 篇作者统计合作学者相似作者

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Biallelic Variants in MRPL49 Cause Variable Clinical Presentations, Including Sensorineural Hearing Loss, Leukodystrophy, and Ovarian Insufficiency
Huw B Thomas,Leigh A M Demain,Alfredo Cabrera-Orefice, Isabelle Schrauwen,Hanan E Shamseldin, Alessandro Rea,Thashi Bharadwaj, Thomas B Smith,Monika Oláhová, Kyle Thompson,Langping He, Namanpreet Kaur,Anju Shukla, Musaad Abukhalid,Muhammad Ansar, Sakina Rehman, Saima Riazuddin,Firdous Abdulwahab, Janine M Smith,Zornitza Stark,Samantha Carrera, Wyatt W Yue,Kevin J Munro,Fowzan S Alkuraya, Peter Jamieson,Zubair M Ahmed,Suzanne M Leal,Robert W Taylor,Ilka Wittig, Raymond T O'Keefe,William G Newman
medRxiv the preprint server for health sciences (2024)
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Scientific Business Abstracts
Faye Cooles,Gemma Vidal-Pedrola,Najib Naamane,Arthur Pratt,Ben Barron-Millar, Amy Anderson,Catharien Hilkens,John Casement, Vincent Bondet, Darragh Duffy, Fan Zhang,Ruchi Shukla,John Isaacs,Martin Little, Miranda Payne,Nicholas Coupe,Benjamin Fairfax,Chelsea Alice Taylor, Sophie Mackay, Gusztav Milotay,Saskia Bos,Bethany Hunter,David Mcdonald,George Merces, Georgia Sheldon,Pauline Pradère, Joaquim Majo, Julian Pulle,Arno Vanstapel, Bart M Vanaudenaerde, Robin Vos,Andrew J Filby,Andrew J Fisher, Jack Collier, James Lambton,Fumi Suomi,Magali Prigent,Claire Guissart,Daniel Erskine,Agata Rozanska, Thomas Mccorvie,Aurélien Trimouille, Aliza Imam,Emma Hobson,Helen Mccullagh,Eirik Frengen, Doriana Misceo,Anna Bjerre, Marie Smeland,Claus Klingenberg,Fowzan Alkuraya,Robert Mcfarland,Charlotte Alston,Wyatt Yue,Renaud Legouis, Michel Koenig,Majlinda Lako,Thomas Mcwilliams,Monika Oláhová, Rob Taylor,William Newman, Rob Harkness,John McDermott,Kay Metcalfe,Naz Khan,William Macken,Robert Pitceathly,Christopher Record,Reza Maroofian,Ataf Sabir, Saikat Santra,Jill Urquhart,Leigh Demain,Helen Byers,Glenda Beaman,Robert Taylor, Enise Durmusalioglu,Tahir Atik,Esra Isik, Ozgur Cogulu,Janine Reunert,Thorsten Marquardt,Lukas Ryba,Rebecca Buchert-Lo,Tobias Haack,Petra Lassuthova,Kiran Polavarapu, Hans Lochmuller,Rita Horvath, Peter Jamieson, Mary Reilly, Ray O'Keefe, Róisín Boggan,Yi Shiau Ng, Imogen Franklin,Emma Blakely,Boriana Büchner,Enrico Bugiardini,Kevin Colclough,Catherine Feeney,Michael Hanna,Andrew Hattersley, Thomas Klopstock, Cornelia Kornblum, Michelangelo Mancuso,Kashyap Patel,Chiara Pizzamiglio, Holger Prokisch, Jochen Schäfer,Andrew Schaefer,Maggie Shepherd,Annemarie Thaele,Rhys Thomas,Doug Turnbull,Gráinne Gorman,Cathy Woodward,Robert McFarland,Heather Cordell,Sarah Pickett,Christo Tsilifis,Mark Pearce,Andrew Gennery,Ann Daly,Rebecca Darlay,Michalina Zatorska, Sarah Worthington,Quentin Anstee,Helen Reeves,Salem Nizami, Joao Mauricio-Muir,Misti McCain, Ranjeet Singh,James Wordsworth,Marcello Kadharusman,Robyn Watson, Steven Masson,Stuart McPherson,Alastair Burt,Dina Tiniakos,Peter Littler, Jeremie Nsengimana, Sylvia Zhang,Derek Mann,David Jamieson,Jack Leslie,Caroline Wilson,Jill Betts,Iain Croall,Nigel Hoggard, Joshua Bennett, Kieren G Hollingsworth,Arthur G Pratt,Maha Egail,Valeria Di Leo,Robert W Taylor,Richard Dodds, Amy E Anderson, Avan Aihie Sayer,John D Isaacs,Celeste McCracken,Dorina-Gabriela Condurache,Liliana Szabo,Hussein Elghazaly,Fiona Walter, Adam Meade, Ronjon Chakraverty,Nicholas Harvey,Charlotte Manisty, Steffen Petersen, Stefan Neubauer, Zahra Raisi-Estabragh,Lowri Allen,Peter Taylor,Annelie Carlsson,William Hagopian, Emma Hedlund, Anita Hill,Angus Jones,Johnny Ludvigsson,Suna Onengut-Gumuscu,Maria Redondo,Stephen Rich,Kathleen Gillespie,Colin Dayan,Richard Oram,Anastasia Resteu,Kristy Wonders,Jörn Schattenberg,Beate Straub,Mattias Ekstedt, Annalisa Berzigotti,Andreas Geier,Sven Francque,Ann Driessen, Jerome Boursier, Hannele Yki-Jarvinen, Johanna Arola,Guruprasad Aithal,Adriaan Holleboom, Joanne Verheij,Carla Yunis, Aldo Trylesinski, George Papatheodoridis, Salvatore Petta, Manuel Romero-Gomez, Elisabetta Bugianesi,Valerie Paradis,Vlad Ratziu,Jenni Burton,Giorgio Ciminata,Claudia Geue,Terry Quinn, Emily Glover,Mychel Morais,Gary Reynolds, Laura Denby,Simi Ali,Rachel Lennon,Neil Sheerin,Freda Yang,Nazanin Zounemat-Kermani,Piers Dixey, Ian M Adcock,Chloe I Bloom,Kian Fan Chung, Olivier Govaere,Megan Hasoon,Leigh Alexander,Simon Cockell,Jörn M Schattenberg,Ann K Daly,Quentin M Anstee
QJM monthly journal of the Association of Physicians (2024)
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Biallelic Variants in MRPL49 Cause Combined Oxidative Phosphorylation Deficiency Characterised by Pleiotropic Clinical Presentations
Huw Thomas,Leigh Demain,Thashi Bharadwaj,Hanan Shamseldin, Alessandro Rea, Thomas Smith, Kyle Thompson,Monika Olahova, Namanpreet Kaur,Anju Shukla,Zubair Ahmed, Sakina Rehman, Saima Riazuddin, Janine Smith,Khurram Liaqat,Zornitza Stark, Wyatt Yue, Kevin Munro,Fowzan Alkuraya, Isabelle Schrauwen,Suzanne Leal,Ilka Wittig,Robert Taylor, Raymond O'Keefe,William Newman
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 431-431
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Pathogenic PDE12 Variants Impair Mitochondrial RNA Processing Causing Neonatal Mitochondrial Disease
Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle,Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals,Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor,Michal Minczuk
EMBO molecular medicine (2024)
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作者统计

#Papers: 50

#Citation: 1221

H-Index: 20

G-Index: 34

Sociability: 7

Diversity: 3

Activity: 17

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