Delaby, Elsa
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2

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinem..:

Richard, Anne Claire ; Rovelet‐Lecrux, Anne ; Delaby, Elsa...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  171 (2016)  3 - p. 377-382 , 2016
 
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4

Convergence of Genes and Cellular Pathways Dysregulated in ..:

Pinto, Dalila ; Delaby, Elsa ; Merico, Daniele...
The American Journal of Human Genetics.  94 (2014)  5 - p. 677-694 , 2014
 
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5

A common X-linked inborn error of carnitine biosynthesis ma..:

Celestino-Soper, Patrícia B. S. ; Violante, Sara ; Crawford, Emily L....
Proceedings of the National Academy of Sciences.  109 (2012)  21 - p. 7974-7981 , 2012
 
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6

A common X-linked inborn error of carnitine biosynthesis ma..:

Celestino-Soper, Patrícia B. S. ; Violante, Sara ; Crawford, Emily L....
Proceedings of the National Academy of Sciences of the United States of America.  109 (2012)  21 - p. 7974-7981 , 2012
 
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7

Genotype–phenotype correlation in four 15q24 deleted patien..:

Andrieux, Joris ; Dubourg, Christèle ; Rio, Marlène...
American Journal of Medical Genetics Part A.  149A (2009)  12 - p. 2813-2819 , 2009
 
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