Zaki, Maha A.
418  results:
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2

Clinical, neuroradiological and molecular characterization ..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Accogli , A , Lin , S-J , Severino , M , Kim , S-H , Huang , K , Rocca , C , Landsverk , M , Zaki , M , Al-Maawali , A , Srinivasan , V M , Al-Thihli , K , Schaefer , G B , Davis , M , Tonduti , D , Doneda , C , Marten , L M , Mühlhausen , C , Gomez , M , Lamantea , E , Mena , R , Nizon , M , Procaccio , V , Begtrup , A , Telegrafi , A , Cui , H , Schulz , H L , Mohr , J , Biskup , S , Loos , M A , Aráoz , H V , Salpietro , V , Keppen , L D , Chitre , M , Petree , C , Raymond , L , Vogt , J , Swayer , L B , Basinger , A A , Pedersen , S V , Pearson , T S , Grange , D K , Lingapp , L , McDunnah , P , Horvath , R , Cogne , B , Isidor , B , Hahn , A , Gripp , K , Jafarnejad , S M , Ostergaard , E , Prada , C E , Ghezzi , D , Gowda , V K , Taylor , R W , Sonenberg , N , Houlden , H , Sissler , M , Varshney , G K & Maroofian , R 2023 , ' Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder ' ....  , 2023
 
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4

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
https://discovery.ucl.ac.uk/id/eprint/10176005/1/1-s2.0-S1098360023009516-main.pdf.  , 2023
 
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5

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

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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6

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

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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7

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

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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8

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

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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9

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

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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10

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

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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11

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

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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12

Inhibition of G-protein signalling in cardiac dysfunction o..:

de Nittis, Pasquelena ; Efthymiou, Stephanie ; Sarre, Alexandre...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2020-107015.  , 2021
 
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13

Implication of folate deficiency in CYP2U1 loss of function:

Pujol, Claire ; Legrand, Anne ; Parodi, Livia...
info:eu-repo/semantics/altIdentifier/doi/10.1084/jem.20210846.  , 2021
 
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14

Inhibition of G-protein signalling in cardiac dysfunction o..:

de Nittis, Pasquelena ; Efthymiou, Stephanie ; Sarre, Alexandre...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2020-107015.  , 2021
 
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15

Inhibition of G-protein signalling in cardiac dysfunction o..:

De Nittis, Pasquelena ; Efthymiou, Stephanie ; Sarre, Alexandre...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2020-107015.  , 2021
 
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