Santiago-Sim, Teresa
73  results:
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9

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

Scala, Marcello ; Wortmann, Saskia B ; Kaya, Namik...
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 , García Cazorla , M Á , Ribes , A , Morava , E , Bibi , F , Haider , S , Ferla , M P , Taylor , J C , Alsaif , H S , Firdous , A , Hashem , M , Shashkin , C , Koneev , K , Kaiyrzhanov , R , Efthymiou , S , Genomics , Q S , Schmitt-Mechelke , T , Zie....  , 2022
 
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10

Gain-of-function variants in GABRD reveal a novel pathway f..:

Ahring, Philip K ; Liao, Vivian W Y ; Gardella, Elena...
https://vbn.aau.dk/da/publications/05db2ba9-81bf-477c-9237-635a45b919d3.  , 2022
 
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11

Heterozygous variants that disturb the transcriptional repr..:

Blok, Lot Snijders ; Vino, Arianna ; den Hoed, Joery...
Blok , L S , Vino , A , den Hoed , J , Underhill , H R , Monteil , D , Li , H , Santos , F J R , Chung , W K , Amaral , M D , Schnur , R E , Santiago-Sim , T , Si , Y , Brunner , H G , Kleefstra , T & Fisher , S E 2021 , ' Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities ' , Genetics in Medicine , vol. 23 , no. 3 , pp. 534-542 . https://doi.org/10.1038/s41436-020-01016-6.  , 2021
 
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12

Neurodegenerative VPS41 variants inhibit HOPS function and ..:

van der Welle, Reini E. N ; Jobling, Rebekah ; Burns, Christian...
https://research.rug.nl/en/publications/804b4fc8-bfe6-4f3c-9e8e-fc8c8471c83e.  , 2021
 
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