Marek Niedziela


AuthID: R-00H-690

Publications Awaiting Confirmation

1
TITLE: NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice
AUTHORS: Chachlaki, Konstantina; Messina, Andrea; Delli, Virginia; Leysen, Valerie; Maurnyi, Csilla; Huber, Chieko; Ternier, Gaetan; Skrapits, Katalin; Papadakis, Georgios; Shruti, Sonal; Kapanidou, Maria; Cheng, Xu; Acierno, James; Rademaker, Jesse; Rasika, Sowmyalakshmi; Quinton, Richard; Niedziela, Marek; L'Allemand, Dagmar; Pignatelli, Duarte; Dirlewander, Mirjam; Lang Muritano, Mariarosaria; Kempf, Patrick; Catteau Jonard, Sophie; Niederlaender, Nicolas J.; Ciofi, Philippe; Tena Sempere, Manuel; Garthwaite, John; Storme, Laurent; Avan, Paul; Hrabovszky, Erik; Carleton, Alan; Santoni, Federico; Giacobini, Paolo; Pitteloud, Nelly; Prevot, Vincent; ...More
PUBLISHED: 2022, SOURCE: SCIENCE TRANSLATIONAL MEDICINE, VOLUME: 14, ISSUE: 665
INDEXED IN: WOS
2
TITLE: Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism  Full Text
AUTHORS: Corin Badiu; Marco Bonomi; Ivan Borshchevsky; Martine Cools; Margarita Craen; Cristina Ghervan; Michael Hauschild; Eli Hershkovitz; Erik Hrabovszky; Anders Juul; Soo Hyun Kim; Phillip Kumanov; Beatriz Lecumberri; Manuel C Lemos; Vassos Neocleous; Marek Niedziela; Sandra Pekic Djurdjevic; Luca Persani; Franziska Phan Hug; Duarte Pignatelli; Nelly Pitteloud; Vera Popovic; Richard Quinton; Nicos Skordis; Neil Smith; Magdalena Avbelj Stefanija; Cheng Xu; Jacques Young; Andrew A Dwyer; ...More
PUBLISHED: 2017, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus WOS

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