BAUER Peter
3619  Ergebnisse:
Personensuche X
?
2

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
 
?
3

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

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
https://discovery.ucl.ac.uk/id/eprint/10183419/1/awad257.pdf.  , 2023
 
?
 
?
8

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
AMFR consortium , Deng , R , Medico-Salsench , E , Nikoncuk , A , Ramakrishnan , R , Lanko , K , Kühn , N A , van der Linde , H C , Lor-Zade , S , Albuainain , F , Shi , Y , Yousefi , S , Capo , I , van den Herik , E M , van Slegtenhorst , M , van Minkelen , R , Geeven , G , Mulder , M T , Ruijter , G J G , Lütjohann , D , Jacobs , E H , Houlden , H , Pagnamenta , A T , Metcalfe , K , Jackson , A , Banka , S , De Simone , L , Schwaede , A , Kuntz , N , Palculict , T B , Abbas , S , Umair , M , AlMuhaizea , M , Colak , D , AlQudairy , H , Alsagob , M , Pereira , C , Trunzo , R , Karageorgou , V , Bertoli-Avella , A M , Bauer , P , Bouman , A , Hoefsloot , L H , van Ham , T J , Issa , M , Zaki , M S , Gleeson , J G , Willemsen , R , Kaya , N , Arold , S T & Maroofian , R 2023 , ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ' , Acta Neuropathologica , vol. 146 , no. 2 , pp. 3....  , 2023
 
?
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
 
?
12

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://discovery.ucl.ac.uk/id/eprint/10165041/1/Houlden_awad039.pdf.  , 2023
 
?
15

Handle with care : post-secrecy records as cultural heritag:

Bauer, Peter
Skrifter med historiska perspektiv, 1652-2761.  , 2023
 
1-15