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Kumble, Smitha
16  results:
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1

Erythromelalgia caused by the missense mutation p.Arg220Pro..:

Deuis, Jennifer R ; Kumble, Smitha ; Keramidas, Angelo...
Human Molecular Genetics.  33 (2023)  2 - p. 103-109 , 2023
Link: https://doi.org/10.1093/..
 
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2

Neonatal Bartter syndrome diagnosed by rapid genomics follo..:

Forbes, Thomas A ; Wallace, Jane ; Kumble, Smitha..
Journal of Paediatrics and Child Health.  58 (2022)  5 - p. 758-761 , 2022
Link: https://doi.org/10.1111/..
 
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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
Link: https://doi.org/10.1002/..
 
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4

The clinical and molecular spectrum ofQRICH1associated neur..:

Kumble, Smitha ; Levy, Amanda M. ; Punetha, Jaya...
Human Mutation.  43 (2021)  2 - p. 266-282 , 2021
Link: https://doi.org/10.1002/..
 
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5

A cost-effectiveness analysis of genomic sequencing in a pr..:

Yeung, Alison ; Tan, Natalie B. ; Tan, Tiong Y....
Genetics in Medicine.  22 (2020)  12 - p. 1986-1993 , 2020
Link: https://doi.org/10.1038/..
 
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6

Rapid genomic testing in acute paediatric care: Is it worth..:

Stark, Zornitza ; Lunke, Sebastian ; Brett, Gemma R....
Pathology.  50 (2018)  - p. S59 , 2018
Link: https://doi.org/10.1016/..
 
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7

Meeting the challenges of implementing rapid genomic testin..:

Stark, Zornitza ; Lunke, Sebastian ; Brett, Gemma R....
Genetics in Medicine.  20 (2018)  12 - p. 1554-1563 , 2018
Link: https://doi.org/10.1038/..
 
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8

Trichohepatoenteric Syndrome Presenting with Severe Infecti..:

Hosking, Laine M. ; Bannister, Elizabeth G. ; Cook, Matthew C....
Journal of Clinical Immunology.  38 (2017)  1 - p. 1-3 , 2017
Link: https://doi.org/10.1007/..
 
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9

Colour and spectral reflectance of stools from normal neona..:

Griffin, Lewis D. ; Sutcliffe, Alastair G. ; Bradbury, Kimberley...
Color Research & Application.  40 (2014)  6 - p. 585-591 , 2014
Link: https://doi.org/10.1002/..
 
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10

The clinical and molecular spectrum of QRICH1 associated ne..:

Kumble, Smitha ; Levy, Amanda ; Punetha, Jaya...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24308.  , 2022
Link: https://univ-rennes.hal...
 
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11

The clinical and molecular spectrum of QRICH1 associated ne..:

Kumble, Smitha ; Levy, Amanda ; Punetha, Jaya...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24308.  , 2022
Link: https://univ-rennes.hal...
 
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12

The clinical and molecular spectrum of QRICH1 associated ne..:

Kumble, Smitha ; Levy, Amanda ; Punetha, Jaya...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24308.  , 2022
Link: https://univ-rennes.hal...
 
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13

The clinical and molecular spectrum of QRICH1 associated ne..:

Kumble, Smitha ; Levy, Amanda ; Punetha, Jaya...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24308.  , 2022
Link: https://univ-rennes.hal...
 
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14

The clinical and molecular spectrum of QRICH1 associated ne..:

Kumble, Smitha ; Marcos Alcalde, Íñigo ; Tümer, Zeynep
https://onlinelibrary.wiley.com/doi/10.1002/humu.24308.  , 2021
Link: http://hdl.handle.net/10..
 
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15

Feasibility of Ultra-Rapid Exome Sequencing in Critically I..:

Lunke, Sebastian ; Eggers, Stefanie ; Wilson, Meredith...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312414/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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