Alsagob, M.
~ 100  Ergebnisse:
Personensuche X
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1

Genetic and phenotypic characterization of NKX6‐2‐related s..:

Chelban, V. ; Alsagob, M. ; Kloth, K....
European Journal of Neurology.  27 (2019)  2 - p. 334-342 , 2019
 
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2

Delineating the phenotypes of early onset myopathy due to n..:

Salih, M. ; Hamad, M. ; Savarese, M....
Journal of the Neurological Sciences.  405 (2019)  - p. 38-39 , 2019
 
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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
 
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4

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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5

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

Scala, M ; Wortmann, S.B ; Kaya, N...
Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan , A C , Santiago-Sim , T , Dameron , A , Yang , H , Toosi , M B , Ashrafzadeh , F , Akhondian , J , Imannezhad , S , Mirzadeh , H S , Maqbool , S , Farid , A , Al-Muhaizea , M A , Alshwameen , M O , Aldowsari , L , Alsagob , M , Alyousef , A , AlMass , R , AlHargan , A , Alwadei , A H , AlRasheed , M M , Colak , D , Alqudairy , H , Khan , S , Lines , M A , Cazorla , M A G , Ribes , A , Morava , E , Bierau , J , van der Knaap , M S , Maroofian , R & Houlden , H H 2022 , ' Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy....  , 2022
 
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6

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

Scala, M ; Wortmann, SB ; Kaya, N...
https://openaccess.sgul.ac.uk/id/eprint/114078/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%25E2%2580%2590radiological%20features%20molecular%20spectrum%20and%20identification%20of%20prognostic%20factors.pdf.  , 2022
 
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7

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

Scala, M ; Wortmann, SB ; Kaya, N...
https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf.  , 2022
 
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8

Bi-allelic variants in HOPS complex subunit VPS41 cause cer..:

Sanderson, LE ; Lanko, K ; Alsagob, M...
https://openaccess.sgul.ac.uk/id/eprint/113126/1/awaa459.pdf.  , 2021
 
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9

Genetic and phenotypic characterization of NKX6‐2‐related s..:

Chelban, V ; Alsagob, M ; Kloth, K...
https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdf.  , 2020
 
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10

Genetic and phenotypic characterization of NKX6‐2‐related s..:

Chelban, V ; Alsagob, M ; Kloth, K...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946857/.  , 2019
 
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11

Loss of UGP2 in brain leads to a severe epileptic encephalo..:

Perenthaler, E ; Nikoncuk, A ; Yousefi, S...
https://discovery.ucl.ac.uk/id/eprint/10088769/1/Perenthaler2019_Article_LossOfUGP2InBrainLeadsToASever.pdf.  , 2019
 
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