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Induction of STAT3-related genes in fast degenerating cone ..:

Schaeferhoff, K. ; Michalakis, S. ; Tanimoto, N....
Cellular and Molecular Life Sciences. 67 (2010) 18 - p. 3173-3186 , 2010

Link: https://doi.org/10.1007/..

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Ph..:

Magrinelli, F ; Cali, E ; Braga, VL...
https://discovery.ucl.ac.uk/id/eprint/10141102/1/Movement%20Disord%20Clin%20Pract%20-%202021%20-%20Magrinelli%20-%20Biallelic%20Loss%E2%80%90of%E2%80%90Function%20NDUFA12%20Variants%20Cause%20a%20Wide%20Phenotypic.pdf. , 2022

Link: https://discovery.ucl.ac..

Defining the phenotypical spectrum associated with variants..:

Brock, S ; Vanderhasselt, T ; Vermaning, S...
issn:0022-2593. , 2021

Link: http://hdl.handle.net/11..

Defining the phenotypical spectrum associated with variants..:

Brock, S ; Vanderhasselt, T ; Vermaning, S...
Brock , S , Vanderhasselt , T , Vermaning , S , Keymolen , K , Régal , L , Romaniello , R , Wieczorek , D , Storm , TM , Schaeferhoff , K , Hehr , U , Kuechler , A , Krägeloh-Mann , I , Haack , TB , Kasteleijn , E , Schot , R , Verheijen - Mancini , G , Webster , R , Mohammad , S , Leventer , RJ , Mirzaa , G , Dobyns , WB , Bahi-Buisson , N , Meuwissen , M , Jansen , AC & Stouffs , K 2021 , ' Defining the phenotypical spectrum associated with variants in TUBB2A ' , Journal of Medical Genetics , vol. 58 , no. 1 , pp. 33-40 . https://doi.org/10.1136/jmedgenet-2019-106740. , 2021

Link: https://pure.eur.nl/en/p..

Defining the phenotypical spectrum associated with variants..:

Brock, S. (Stefanie) ; Vanderhasselt, T. (Tim) ; Vermaning, S. (Sietske)...
http://repub.eur.nl/pub/128184. , 2020

Link: http://repub.eur.nl/pub/..

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