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2022-07
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department.
Walsh, M
;
West, K
;
Taylor, JA
;
Thompson, BA
;
Hopkins, A
;
Sexton, A
;
Ragunathan, A
;
Verma, KP
;
Panetta, J
;
Matotek, E
;
Fahey, MC
;
Christie, M
;
Winship, IM
;
Trainer, AH
;
James, PA
2021-05-30
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Pakdaman, Y
;
Berland, S
;
Bustad, HJ
;
Erdal, S
;
Thompson, BA
;
James, PA
;
Power, KN
;
Ellingsen, S
;
Krooni, M
;
Berge, LI
;
Sexton, A
;
Bindoff, LA
;
Knappskog, PM
;
Johansson, S
;
Aukrust, I
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0399 Other Chemical Sciences, 060...
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0604 Genetics, 1103 Clinical Scie...
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Chemical Physics
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