Ellaway, Anne
242  Ergebnisse:
Personensuche X
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1

Impact of citrulline substitution on clinical outcome after..:

Aldrian, Denise ; Waldner, Birgit ; Vogel, Georg F....
Journal of Inherited Metabolic Disease.  47 (2024)  2 - p. 220-229 , 2024
 
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2

Whole exome and genome sequencing in mendelian disorders: a..:

Ewans, Lisa J. ; Minoche, Andre E. ; Schofield, Deborah...
European Journal of Human Genetics.  30 (2022)  10 - p. 1121-1131 , 2022
 
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3

The diverse pleiotropic effects of spliceosomal protein PUF..:

Fennell, Andrew Paul ; Baxter, Anne Elizabeth ; Berkovic, Samuel Frank...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3432-3447 , 2022
 
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4

Whole exome and genome sequencing in mendelian disorders:a ..:

Ewans, Lisa J ; Minoche, Andre E ; Schofield, Deborah...
Ewans , L J , Minoche , A E , Schofield , D , Shrestha , R , Puttick , C , Zhu , Y , Drew , A , Gayevskiy , V , Elakis , G , Walsh , C , Adès , L C , Colley , A , Ellaway , C , Evans , C-A , Freckmann , M-L , Goodwin , L , Hackett , A , Kamien , B , Kirk , E P , Lipke , M , Mowat , D , Palmer , E , Rajagopalan , S , Ronan , A , Sachdev , R , Stevenson , W , Turner , A , Wilson , M , Worgan , L , Morel-Kopp , M-C , Field , M , Buckley , M F , Cowley , M J , Dinger , M E & Roscioli , T 2022 , ' Whole exome and genome sequencing in mendelian disorders : a diagnostic and health economic analysis ' , European Journal of Human Genetics , vol. 30 , no. 10 , pp. 1121–1131 . https://doi.org/10.1038/s41431-022-01162-2.  , 2022
 
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13

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Rec..:

Frazier, Ann E ; Compton, Alison G ; Kishita, Yoshihito...
Frazier , A E , Compton , A G , Kishita , Y , Hock , D H , Welch , A M E , Amarasekera , S S C , Rius , R , Formosa , L E , Imai-Okazaki , A , Francis , D , Wang , M , Lake , N J , Tregoning , S , Jabbari , J S , Lucattini , A , Nitta , K R , Ohtake , A , Murayama , K , Amor , D J , McGillivray , G , Wong , F Y , van der Knaap , M S , Vermeulen , R J , Wiltshire , E J , Fletcher , J M , Lewis , B , Baynam , G , Ellaway , C , Balasubramaniam , S , Bhattacharya , K , Freckmann , M L , Arbuckle , S , Rodriguez , M , Taft , R J , Sadedin , S , Cowley , M J , Minoche , A E , Calvo , S E , Mootha , V K , Ryan , M T , Okazaki , Y , Stroud , D A , Simons , C , Christodoulou , J & Thorburn , D R 2021 , ' Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus ' , Med , vol. 2 , no. 1 , pp. 49-73.e10 . https://doi.org/10.1016/j.medj.2020.06.004.  , 2021
 
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15

Evaluating the effect of change in the built environment on..:

Ram, Bina ; Limb, Elizabeth S ; Shankar, Aparna...
Journal of Epidemiology and Community Health (1979-).  74 (2020)  8 - p. 631-638 , 2020
 
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