Salpietro, A.
617  Ergebnisse:
Personensuche X
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4

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro V ; Maroofian R ; Zaki M. S...
info:eu-repo/semantics/altIdentifier/pmid/38118446.  , 2024
 
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7

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, Andrea ; Zaki, Maha S ; Al-Owain, Mohammed...
https://discovery.ucl.ac.uk/id/eprint/10178661/1/Efthymiou_Lunapark%20deficiency%20leads%20to%20an%20autosomal%20recessive%20neurodevelopmental%20phenotype%20with%20a%20degenerative%20course,%20epilepsy%20and%20distinct%20brain%20anomalies_VoR.pdf.  , 2023
 
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9

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, R ; Kaiyrzhanov, R ; Cali, E...
https://openaccess.sgul.ac.uk/id/eprint/116030/1/awad257.pdf.  , 2023
 
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10

BRAT1-related disorders: phenotypic spectrum and phenotype-..:

Engel, Camille ; Valence, Stephanie ; Delplancq, Geoffroy...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01410-z.  , 2023
 
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11

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Maroofian , R , Kaiyrzhanov , R , Cali , E , Zamani , M , Zaki , M S , Ferla , M , Tortora , D , Sadeghian , S , Saadi , S M , Abdullah , U , Ghayoor Karimiani , E , Efthymiou , S , Yeşil , G , Alavi , S , Al Shamsi , A M , Tajsharghi , H , Abdel-Hamid , M S , Saadi , N W , Al Mutairi , F , Alabdi , L , Beetz , C , Ali , Z , Toosi , M B , Rudnik-Schöneborn , S , Babaei , M , Isohanni , P , Muhammad , J , Sheraz , K , Al Shalan , M , Hickey , S E , Marom , D , Elhanan , E , Kurian , M A , Marafi , D , Saberi , A , Hamid , M , Spaull , R , Meng , L , Lalani , S , Maqbool , S , Rahman , F , Seeger , J , Palculict , T B , Lau , T , Murphy , D , Mencacci , N E , Steindl , K , Begemann , A , Rauch , A , Akbas , S , Dilruba , A A , Salpietro , V , Yousaf , H , Ben-Shachar , S , Ejeskär , K , Al Aqeel , A I , High , F A , Armstrong-Javors , A E , Zahraei , S M , Seifi , T , Zeighami , J , Shariati , G , Sedaghat , A , Asl , S N , Shahrooei , M , Zifarelli , G , Burg....  , 2023
 
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14

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, A ; Zaki, MS ; Al-Owain, M...
https://openaccess.sgul.ac.uk/id/eprint/115885/1/fcad222.pdf.  , 2023
 
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15

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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