Accadia, Maria
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5

Novel genetic variants of KHDC3L and other members of the s..:

Pignata, Laura ; Cecere, Francesco ; Verma, Ankit...
Reproducció del document publicat a: https://doi.org/10.1186/s13148-022-01292-w.  , 2022
 
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7

Novel genetic variants of KHDC3L and other members of the s..:

Pignata, Laura ; Cecere, Francesco ; Verma, Ankit...
info:eu-repo/semantics/altIdentifier/wos/WOS:000801180200001.  , 2022
 
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9

Novel genetic variants of KHDC3L and other members of the s..:

Pignata, Laura ; Cecere, Francesco ; Verma, Ankit...
https://ueaeprints.uea.ac.uk/id/eprint/89675/1/s13148_022_01292_w.pdf.  , 2022
 
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12

Protein instability associated with AARS1 and MARS1 mutatio..:

Botta, Elena ; Theil, Arjan F ; Raams, Anja...
Botta , E , Theil , A F , Raams , A , Caligiuri , G , Giachetti , S , Bione , S , Accadia , M , Lombardi , A , Smith , D E C , Mendes , M I , Swagemakers , S M A , Van Der Spek , P J , Salomons , G S , Hoeijmakers , J H J , Yesodharan , D , Nampoothiri , S , Ogi , T , Lehmann , A R , Orioli , D & Vermeulen , W 2021 , ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ' , Human Molecular Genetics , vol. 30 , no. 18 , pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123.  , 2021
 
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14

Protein instability associated with AARS1 and MARS1 mutatio..:

Botta, Elena ; Theil, Arjan F ; Raams, Anja...
http://sro.sussex.ac.uk/id/eprint/103877/1/ddab123.pdf.  , 2021
 
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