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Papers共 541 篇Author StatisticsCo-AuthorSimilar Experts

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Genomic Reanalysis of a Pan-European Rare-Disease Resource Yields New Diagnoses
Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen
Nature Medicinepp.1-12, (2025)
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Carnosic Acid Production from Sugarcane Syrup by Engineered Yeast in Fed-Batch Fermentation
Erdem Carsanba, Sara Fernandes, Felipe Beato, Luís Carlos Carvalho, Ana Pintado, Ana Lopes, Mónica Ribeiro, Tânia Leal,Manuela Pintado,Carla Oliveira
Fermentationno. 3 (2025): 147
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The Risk of a Second Primary Cancer in PTEN Hamartoma Tumor Syndrome (PHTS)
Linda A J Hendricks, Katja C J Verbeek,Janneke H M Schuurs-Hoeijmakers, Mirjam M de Jong, Thera P Links,Hilde Brems, Mio Aerden,Joan Brunet, Roser Lleuger-Pujol, Robert Hüneburg,Stefan Aretz,Chrystelle Colas, Marie-Charlotte Villy,Emma R Woodward, D Gareth Evans,Daniëlle G M Bosch, Stephany H Donze,Lenka Foretová,Ana Blatnik, Edward M Leter,Marc Tischkowitz,Arne Jahn, Robin de Putter,Juliette Dupont, Siri Briskemyr,Verena Steinke-Lange, Margherita Baldassarri, Violetta C Anastasiadou,Arvīds Irmejs,Carla Oliveira,Rachel S van der Post,Arjen R Mensenkamp,Bianca Tesi, Ninni Mu,Patrick R Benusiglio, Anna Gerasimenko, Giovanni Innella,Daniela Turchetti,Claude Houdayer, Maud Branchaud,Hildegunn Høberg-Vetti, Marianne Tveit Haavind,Judith Balmaña, Maite Torres, Maurizio Genuardi, Arianna Panfili,Kjersti Jørgensen,Lovise Mæhle, Nicoline Hoogerbrugge,Janet R Vos
Genetics in medicine official journal of the American College of Medical Geneticspp.101467-101467, (2025)
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A Protocol for Karyotyping and Genetic Editing of Induced Pluripotent Stem Cells with Homology-Directed Repair Mediated CRISPR/Cas9
Silvana Lobo, Rita Barbosa-Matos, Sofia Dória, Ana Maria Pedro, Ana Brito,Daniel Ferreira,Carla Oliveira
Biology methods & protocolsno. 1 (2025): bpaf018-bpaf018
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Author Statistics

#Papers: 542

#Citation: 22915

H-Index: 67

G-Index: 144

Sociability: 8

Diversity: 4

Activity: 75

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