Efthymiou S
391  Ergebnisse:
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1

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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2

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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3

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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4

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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5

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

Salpietro, V ; Maroofian, R ; Zaki, MS...
https://discovery.ucl.ac.uk/id/eprint/10184635/1/1-s2.0-S0002929723004305-main.pdf.  , 2023
 
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6

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, R ; Rad, A ; Lin, S-J...
https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdf.  , 2023
 
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7

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

Cali, E ; Suri, M ; Scala, M...
https://openaccess.sgul.ac.uk/id/eprint/115315/1/1-s2.0-S1098360022009546-main.pdf.  , 2023
 
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8

A novel variant of GALC in a familial case of krabbe diseas..:

Ullah, I ; Waqas, M ; Ilyas, M...
https://discovery.ucl.ac.uk/id/eprint/10172859/1/1-s2.0-S2352304223000387-main.pdf.  , 2023
 
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9

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

Saffari, A ; Lau, T ; Tajsharghi, H...
https://eprints.whiterose.ac.uk/207906/1/awad039.pdf.  , 2023
 
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10

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

Saffari, A ; Lau, T ; Tajsharghi, H...
https://openaccess.sgul.ac.uk/id/eprint/115591/1/awad039.pdf.  , 2023
 
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11

Genotype–phenotype correlation in contactin-associated prot..:

D'Onofrio, G ; Accogli, A ; Severino, M...
https://discovery.ucl.ac.uk/id/eprint/10170801/1/s00439-023-02552-2.pdf.  , 2023
 
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12

A homozygous MED11 C-terminal variant causes a lethal neuro..:

Calì, Elisa ; Lin, Sheng Jia ; Rocca, Clarissa...
Calì , E , Lin , S J , Rocca , C , Sahin , Y , Al Shamsi , A , El Chehadeh , S , Mankad , K , Galanaki , E , Efthymiou , S , Sudhakar , S , Athanasiou-Fragkouli , A , Çelik , T , Narlı , N , Bianca , S , Murphy , D , De Carvalho Moreira , F M , Andrea Accogli , A , Petree , C , Huang , K , Monastiri , K , Edizadeh , M , Nardello , R , Ognibene , M , De Marco , P , Ruggieri , M , Zara , F , Şahin , Y , Al-Gazali , L , Abi Warde , M T , Gerard , B , Zifarelli , G , Beetz , C , Fortuna , S , Soler , M , Valente , E M , Varshney , G , Maroofian , R , Salpietro , V , Houlden , H & SYNAPS Study Group 2022 , ' A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease ' , Genetics in Medicine , vol. 24 , no. 10 , pp. 2194-2203 . https://doi.org/10.1016/j.gim.2022.07.013.  , 2022
 
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13

The collaborative outcomes study on health and functioning ..:

Solmi, M ; Estradé, A ; Thompson, T...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jad.2021.07.048.  , 2022
 
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14

Myoclonic status epilepticus and cerebellar hypoplasia asso..:

Rinaldi B ; Ge Y. -H ; Freri E...
info:eu-repo/semantics/altIdentifier/pmid/34731330.  , 2022
 
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15

Clinico-radiological features, molecular spectrum, and iden..:

Scala, M ; Wortmann, S.B ; Kaya, N...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24326.  , 2022
 
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