Sánchez-Andrade, Gabriela
114  Ergebnisse:
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2

Models of KPTN -related disorder implicate mTOR signalling ..:

Levitin, Maria O ; Rawlins, Lettie E ; Sanchez-Andrade, Gabriela...
https://pure.au.dk/portal/en/publications/b1b4e32d-066a-41f0-9436-c69a0922b12a.  , 2023
 
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3

The impact of rare protein coding genetic variation on adul..:

Chen, Chia-Yen ; Tian, Ruoyu ; Ge, Tian...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10260403/.  , 2023
 
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4

Models of KPTN-related disorder implicate mTOR signalling i..:

Levitin, Maria O ; Rawlins, Lettie E ; Sanchez-Andrade, Gabriela...
https://research.rug.nl/en/publications/50ef2d4e-82de-4fa9-a525-d8eb3c8ce1d8.  , 2023
 
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8

Rare genetic variants impact muscle strength:

Huang, Yunfeng ; Bodnar, Dora ; Chen, Chia-Yen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257725/.  , 2023
 
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11

BCL11A Haploinsufficiency Causes an Intellectual Disability..:

Dias, Cristina ; Estruch, Sara B ; Graham, Sarah A...
Dias , C , Estruch , S B , Graham , S A , McRae , J , Sawiak , S J , Hurst , J A , Joss , S K , Holder , S E , Morton , J E V , Turner , C , Thevenon , J , Mellul , K , Sánchez-Andrade , G , Ibarra-Soria , X , Deriziotis , P , Santos , R F , Lee , S-C , Faivre , L , Kleefstra , T , Liu , P , Hurles , M E & Fisher , S E & Logan , D W 2016 , ' BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription ' , American Journal of Human Genetics , vol. 99 , no. 2 , pp. 253-274 . https://doi.org/10.1016/j.ajhg.2016.05.030.  , 2016
 
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12

BCL11A Haploinsufficiency Causes an Intellectual Disability..:

Dias, Cristina ; Estruch, Sara B ; Graham, Sarah A...
Dias , C , Estruch , S B , Graham , S A , McRae , J , Sawiak , S J , Hurst , J A , Joss , S K , Holder , S E , Morton , J E V , Turner , C , Thevenon , J , Mellul , K , Sánchez-Andrade , G , Ibarra-Soria , X , Deriziotis , P , Santos , R F , Lee , S-C , Faivre , L , Kleefstra , T , Liu , P , Hurles , M E & Fisher , S E & Logan , D W 2016 , ' BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription ' , American Journal of Human Genetics , vol. 99 , no. 2 , pp. 253-274 . https://doi.org/10.1016/j.ajhg.2016.05.030.  , 2016
 
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