James, Chela T.
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1

Exome sequencing for the differential diagnosis of ciliary ..:

Antony, Dinu ; Nampoory, Narayanan ; Bacchelli, Chiara...
European Journal of Medical Genetics.  60 (2017)  12 - p. 658-666 , 2017
 
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2

HNF4A and Hyperinsulinemic Hypoglycemia:

, In: Monogenic Hyperinsulinemic Hypoglycemia Disorders; Frontiers in Diabetes,
 
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9

ZSWIM7Is Associated With Human Female Meiosis and Familial ..:

McGlacken-Byrne, Sinéad M ; Le Quesne Stabej, Polona ; Del Valle, Ignacio...
The Journal of Clinical Endocrinology & Metabolism.  107 (2021)  1 - p. e254-e263 , 2021
 
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10

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibrobl..:

Reid, Emma S. ; Williams, Hywel ; Anderson, Glenn...
Journal of Inherited Metabolic Disease.  40 (2017)  3 - p. 385-394 , 2017
 
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12

An instructive role for Interleukin-7 receptor α in the dev..:

Geron, Ifat ; Savino, Angela Maria ; Fishman, Hila...
https://discovery.ucl.ac.uk/id/eprint/10143765/1/Brown_s41467-022-28218-7.pdf.  , 2022
 
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