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Research Interests

Papers共 497 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders
Enrico Ambrosini, Rita Cancilla,Jefri Jeya Paul,Peter Bauer,Barbara Garavaglia,Valeria Barili,Antonio Percesepe,Anna Negrotti
Movement disorders : official journal of the Movement Disorder Societyno. 6 (2024): 1072-1074
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Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases
Harvy Mauricio Velasco,Aida Bertoli-Avella, Carolina Jaramillo Jaramillo, Danny Styvens Cardona, Leonel Andrés González, Melisa Naranjo Vanegas, Juan Pablo Valencia Arango, Cesar Augusto Buitrago, Jorge Alberto Gutiérrez González, Jonas Marcello,Peter Bauer, Juliana Espinosa Moncada
European journal of human genetics : EJHGpp.1-11, (2024)
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Evolutionary insights into sequence modifications governing chitin recognition and chitinase inactivity in YKL-40 (HC-gp39, CHI3L1)
Keita Suzuki,Kazuaki Okawa, Masashi Ohkura, Tomoki Kanaizumi, Takaki Kobayashi, Koro Takahashi, Hiromu Takei, Momo Otsuka,Eri Tabata,Peter O. Bauer,Fumitaka Oyama
Journal of Biological Chemistryno. 6 (2024): 107365-107365
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