Prada, Carlos E.
206  results:
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3

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2023.100938.  , 2023
 
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7

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx.  , 2023
 
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8

Clinical, neuroradiological and molecular characterization ..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Accogli , A , Lin , S-J , Severino , M , Kim , S-H , Huang , K , Rocca , C , Landsverk , M , Zaki , M , Al-Maawali , A , Srinivasan , V M , Al-Thihli , K , Schaefer , G B , Davis , M , Tonduti , D , Doneda , C , Marten , L M , Mühlhausen , C , Gomez , M , Lamantea , E , Mena , R , Nizon , M , Procaccio , V , Begtrup , A , Telegrafi , A , Cui , H , Schulz , H L , Mohr , J , Biskup , S , Loos , M A , Aráoz , H V , Salpietro , V , Keppen , L D , Chitre , M , Petree , C , Raymond , L , Vogt , J , Swayer , L B , Basinger , A A , Pedersen , S V , Pearson , T S , Grange , D K , Lingapp , L , McDunnah , P , Horvath , R , Cogne , B , Isidor , B , Hahn , A , Gripp , K , Jafarnejad , S M , Ostergaard , E , Prada , C E , Ghezzi , D , Gowda , V K , Taylor , R W , Sonenberg , N , Houlden , H , Sissler , M , Varshney , G K & Maroofian , R 2023 , ' Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder ' ....  , 2023
 
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10

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
https://discovery.ucl.ac.uk/id/eprint/10176005/1/1-s2.0-S1098360023009516-main.pdf.  , 2023
 
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15

Biallelic loss of LDB3 leads to a lethal pediatric dilated ..:

Koopmann, Tamara T ; Jamshidi, Yalda ; Naghibi-Sistani, Mohammad...
https://discovery.ucl.ac.uk/id/eprint/10158027/1/s41431-022-01204-9.pdf.  , 2022
 
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