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Zaki, MS
109  results:
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1

Aicardi‐Goutières syndrome: clinical and neuroradiological ..:

Abdel‐Salam, GMH ; Zaki, MS ; Lebon, P.
Acta Paediatrica.  93 (2004)  7 - p. 929-936 , 2004
Link: https://doi.org/10.1111/..
 
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2

Brain monoamine vesicular transport disease caused by homoz..:

Saida, K ; Maroofian, R ; Sengoku, T...
https://discovery.ucl.ac.uk/id/eprint/10184407/1/1-s2.0-S1098360022009480-am.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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3

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, R ; Medico-Salsench, E ; Nikoncuk, A...
https://discovery.ucl.ac.uk/id/eprint/10169693/1/s00401-023-02579-9.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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4

Diagnostic implications of pitfalls in causal variant ident..:

AlAbdi, L ; Maddirevula, S ; Shamseldin, HE...
https://discovery.ucl.ac.uk/id/eprint/10184241/1/s41467-023-40909-3.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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5

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
Link: https://openaccess.sgul...
 
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6

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
Link: https://openaccess.sgul...
 
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7

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
Link: https://discovery.ucl.ac..
 
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8

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
Link: https://openaccess.sgul...
 
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9

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, J ; Huebner, AK ; Liebmann, L...
https://openaccess.sgul.ac.uk/id/eprint/115896/1/awad235.pdf.  , 2023
Link: https://openaccess.sgul...
 
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10

TEFM variants impair mitochondrial transcription causing ch..:

Van Haute, L ; O'Connor, E ; Díaz-Maldonado, H...
issn:2041-1723.  , 2023
Link: http://hdl.handle.net/11..
 
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11

Biallelic variants in ZNF142 lead to a syndromic neurodevel..:

Christensen, MB ; Levy, AM ; Mohammadi, NA...
https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdf.  , 2022
Link: https://openaccess.sgul...
 
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12

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Q ; Motta, M ; Gautier, T...
https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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13

Bi-allelic loss-of-function variants in PPFIBP1 cause a neu..:

Rosenhahn, E ; O'Brien, TJ ; Zaki, MS...
https://discovery.ucl.ac.uk/id/eprint/10154233/1/1-s2.0-S0002929722002610-main.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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14

Biallelic loss of EMC10 leads to mild to severe intellectua..:

Kaiyrzhanov, R ; Rocca, C ; Suri, M...
https://openaccess.sgul.ac.uk/id/eprint/114575/1/Ann%20Clin%20Transl%20Neurol%20-%202022%20-%20Kaiyrzhanov%20-%20Biallelic%20loss%20of%20EMC10%20leads%20to%20mild%20to%20severe%20intellectual%20disability.pdf.  , 2022
Link: https://openaccess.sgul...
 
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15

Biallelic variants in SLC38A3 encoding a glutamine transpor..:

Marafi, D ; Fatih, JM ; Kaiyrzhanov, R...
https://discovery.ucl.ac.uk/id/eprint/10139262/1/awab369.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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