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Fletcher, Janice
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1

Corrigendum to "Comparative analysis of brain pathology in ..:

Derrick-Roberts, Ainslie ; Kaidonis, Xenia ; Jackson, Matilda R....
Molecular Genetics and Metabolism.  135 (2022)  1 - p. 114 , 2022
Link: https://doi.org/10.1016/..
 
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2

Multi-omics approach characterises CRLS1 deficiency, a nove..:

Balasubramaniam, Shanti ; Lee, Richard G. ; Padman, Benjamin...
Pathology.  54 (2022)  - p. S13 , 2022
Link: https://doi.org/10.1016/..
 
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3

The relationship between beta-ureidopropionase deficiency d..:

Righetti, Sarah ; Allcock, Richard J.N. ; Yaplito-Lee, Joy...
Molecular Genetics and Metabolism.  137 (2022)  1-2 - p. 62-67 , 2022
Link: https://doi.org/10.1016/..
 
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4

Deleterious variants in CRLS1 lead to cardiolipin deficienc..:

Lee, Richard G ; Balasubramaniam, Shanti ; Stentenbach, Maike...
Human Molecular Genetics.  31 (2022)  21 - p. 3597-3612 , 2022
Link: https://doi.org/10.1093/..
 
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5

Newborn Screening for Inborn Errors of Metabolism:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,
Fingerhut, Ralph ; Fletcher, Janice ; Ranieri, Enzo - p. 3-16 , 2022
Link: https://doi.org/10.1007/..
 
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6

Delivering high throughput urgent exome sequencing at a dia..:

Sundercombe, Samantha ; Cliffe, Corrina ; Khan, Kay..
Pathology.  54 (2022)  - p. S35 , 2022
Link: https://doi.org/10.1016/..
 
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7

Functional assay for analysis of variants of uncertain sign..:

Balasubramaniam, Shanti ; Chin, Sharon ; Ho, Gladys...
Pathology.  53 (2021)  - p. S42 , 2021
Link: https://doi.org/10.1016/..
 
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8

Challenges in Diagnosing Intermediate Maple Syrup Urine Dis..:

Sajeev, Mona ; Chin, Sharon ; Ho, Gladys...
International Journal of Neonatal Screening.  7 (2021)  2 - p. 25 , 2021
Link: https://doi.org/10.3390/..
 
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9

P109 Responsive Feeding During COVID-19: Evaluation of a Sp..:

Dev, Dipti A. ; Hasnin, Saima ; Sigman-Grant, Madeleine..
Journal of Nutrition Education and Behavior.  53 (2021)  7 - p. S75 , 2021
Link: https://doi.org/10.1016/..
 
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10

Clinical implications of discordant massarray and sanger se..:

Mordaunt, Dylan A. ; Button, Emily ; Hardy, Tristan...
Pathology.  52 (2020)  - p. S60 , 2020
Link: https://doi.org/10.1016/..
 
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11

Multiple acyl-CoA dehydrogenase deficiency (MADD) presentin..:

Hong, Lih En ; Phillips, Liza K ; Fletcher, Janice.
Rheumatology.  59 (2020)  12 - p. e128-e130 , 2020
Link: https://doi.org/10.1093/..
 
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12

Cystathionine beta synthase deficiency and brain edema asso..:

Schwahn, Bernd C. ; Scheffner, Thomas ; Stepman, Hedwig...
JIMD Reports.  52 (2020)  1 - p. 3-10 , 2020
Link: https://doi.org/10.1002/..
 
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13

Comparative analysis of brain pathology in heparan sulphate..:

Derrick-Roberts, Ainslie ; Kaidonis, Xenia ; Jackson, Matilda R....
Molecular Genetics and Metabolism.  131 (2020)  1-2 - p. 197-205 , 2020
Link: https://doi.org/10.1016/..
 
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14

Review of 12 months of copy number variant calling on a cli..:

Mordaunt, Dylan A. ; Soubrier, Julien ; Gao, Song...
Pathology.  52 (2020)  - p. S108 , 2020
Link: https://doi.org/10.1016/..
 
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15

Delayed development of ossification centers in the tibia of..:

Jiang, Zhirui ; Derrick-Roberts, Ainslie L.K. ; Jackson, Matilda R....
Molecular Genetics and Metabolism.  124 (2018)  2 - p. 135-142 , 2018
Link: https://doi.org/10.1016/..
 
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