Burkitt‐Wright, Emma MM.
30  Ergebnisse:
Personensuche X
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3

The diagnostic utility of clinical exome sequencing in 60 p..:

Molina‐Ramírez, Leslie P ; Burkitt‐Wright, Emma MM ; Saeed, Haroon...
https://chesterrep.openrepository.com/bitstream/handle/10034/625148/coa.13826.pdf?sequence=2.  , 2021
 
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Personalised virtual gene panels reduce interpretation work..:

Molina-Ramírez, Leslie Patricia ; Kyle, Claire ; Ellingford, Jamie M...
Molina-Ramírez , L P , Kyle , C , Ellingford , J M , Wright , R , Taylor , A , Bhaskar , S S , Campbell , C , Jackson , H , Fairclough , A , Rousseau , A , Burghel , G J , Dutton , L , Banka , S , Briggs , T A , Clayton-Smith , J , Douzgou , S , Jones , E A , Kingston , H M , Kerr , B , Ealing , J , Somarathi , S , Chandler , K E , Stuart , H M , Burkitt-Wright , E M , Newman , W G , Bruce , I A , Black , G C & Gokhale , D 2021 , ' Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders ' , Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107303.  , 2021
 
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6

The diagnostic utility of clinical exome sequencing in 60 p..:

Molina-Ramírez, Leslie P ; Burkitt-Wright, Emma Mm ; Saeed, Haroon...
Molina-Ramírez , L P , Burkitt-Wright , E M , Saeed , H , McDermott , J H , Kyle , C , Wright , R , Campbell , C , Bhaskar , S S , Taylor , A , Dutton , L , Forde , C , Metcalfe , K , Smith , A , Clayton-Smith , J , Douzgou , S , Chandler , K , Briggs , T A , Banka , S , Newman , W G , Gokhale , D , Bruce , I A & Black , G C 2021 , ' The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders : A single-institution experience ' , Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery , vol. 46 , no. 6 , pp. 1257-1262 . https://doi.org/10.1111/coa.13826.  , 2021
 
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10

The sixth international RASopathies symposium: Precision me..:

Gripp, Karen W. ; Schill, Lisa ; Schoyer, Lisa...
American Journal of Medical Genetics Part A.  182 (2019)  3 - p. 597-606 , 2019
 
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11

A heterozygous microdeletion of 20p12.2–3 encompassing PROK..:

Parsons, Samuel J. H. ; Wright, Neville B. ; Burkitt‐Wright, Emma..
American Journal of Medical Genetics Part A.  173 (2017)  8 - p. 2261-2267 , 2017
 
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12

Autism spectrum disorder and other neurobehavioural comorbi..:

Garg, Shruti ; Brooks, Ami ; Burns, Amy...
Developmental Medicine & Child Neurology.  59 (2017)  5 - p. 544-549 , 2017
 
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13

The Fourth International Symposium on Genetic Disorders of ..:

Stevenson, David A. ; Schill, Lisa ; Schoyer, Lisa...
American Journal of Medical Genetics Part A.  170 (2016)  8 - p. 1959-1966 , 2016
 
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14

Recent developments in neurofibromatoses and RASopathies: M..:

Rauen, Katherine A. ; Huson, Susan M. ; Burkitt‐Wright, Emma...
American Journal of Medical Genetics Part A.  167 (2014)  1 - p. 1-10 , 2014
 
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15

Neonatal lethal Costello syndrome and unusual dinucleotide ..:

Burkitt‐Wright, Emma M.M. ; Bradley, Lisa ; Shorto, Jennifer...
American Journal of Medical Genetics Part A.  158A (2012)  5 - p. 1102-1110 , 2012
 
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