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Redin, Claire
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1

Combining European and U.S. risk prediction models with pol..:

de La Harpe, Roxane ; Thorball, Christian W ; Redin, Claire...
European Journal of Preventive Cardiology.  30 (2023)  7 - p. 561-571 , 2023
Link: https://doi.org/10.1093/..
 
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2

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC..:

Redin, Claire ; Pavlidou, Despina Christina ; Bhuiyan, Zahurul...
European Journal of Medical Genetics.  65 (2022)  12 - p. 104627 , 2022
Link: https://doi.org/10.1016/..
 
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3

Host genomics of SARS-CoV-2 infection:

Redin, Claire ; Thorball, Christian W. ; Fellay, Jacques
European Journal of Human Genetics.  30 (2022)  8 - p. 908-914 , 2022
Link: https://doi.org/10.1038/..
 
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4

Diagnosis of Genetic White Matter Disorders by Singleton Wh..:

Schlüter, Agatha ; Rodríguez-Palmero, Agustí ; Verdura, Edgard...
Neurology.  98 (2022)  9 - p. , 2022
Link: https://doi.org/10.1212/..
 
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5

Transcriptional and functional consequences of alterations ..:

Mohajeri, Kiana ; Yadav, Rachita ; D'haene, Eva...
The American Journal of Human Genetics.  109 (2022)  11 - p. 2049-2067 , 2022
Link: https://doi.org/10.1016/..
 
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6

Phenotypic interpretation of complex chromosomal rearrangem..:

Zepeda-Mendoza, Cinthya J. ; Bardon, Alexandra ; Kammin, Tammy...
European Journal of Human Genetics.  26 (2018)  3 - p. 374-381 , 2018
Link: https://doi.org/10.1038/..
 
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7

Disease-causing variants in TCF4 are a frequent cause of in..:

Mary, Laura ; Piton, Amélie ; Schaefer, Elise...
European Journal of Human Genetics.  26 (2018)  7 - p. 996-1006 , 2018
Link: https://doi.org/10.1038/..
 
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8

Genes and Pathways Regulated by Androgens in Human Neural C..:

Quartier, Angélique ; Chatrousse, Laure ; Redin, Claire...
Biological Psychiatry.  84 (2018)  4 - p. 239-252 , 2018
Link: https://doi.org/10.1016/..
 
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9

Intragenic FMR1 disease-causing variants: a significant mut..:

Quartier, Angélique ; Poquet, Hélène ; Gilbert-Dussardier, Brigitte...
European Journal of Human Genetics.  25 (2017)  4 - p. 423-431 , 2017
Link: https://doi.org/10.1038/..
 
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10

A new family with an SLC9A6 mutation expanding the phenotyp..:

Masurel‐Paulet, Alice ; Piton, Amélie ; Chancenotte, Sophie...
American Journal of Medical Genetics Part A.  170 (2016)  8 - p. 2103-2110 , 2016
Link: https://doi.org/10.1002/..
 
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11

Validation of a clinical practice-based algorithm for the d..:

Mallaret, Martial ; Renaud, Mathilde ; Redin, Claire...
Journal of Neurology.  263 (2016)  7 - p. 1314-1322 , 2016
Link: https://doi.org/10.1007/..
 
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12

The genomic landscape of balanced cytogenetic abnormalities..:

Redin, Claire ; Brand, Harrison ; Collins, Ryan L...
Nature Genetics.  49 (2016)  1 - p. 36-45 , 2016
Link: https://doi.org/10.1038/..
 
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13

Identification of a novel mutation confirms the implication..:

Schaefer, Elise ; Stoetzel, Corinne ; Scheidecker, Sophie...
Journal of Human Genetics.  61 (2016)  5 - p. 447-450 , 2016
Link: https://doi.org/10.1038/..
 
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14

A Mitochondrial Pyruvate Carrier Required for Pyruvate Upta..:

Bricker, Daniel K. ; Taylor, Eric B. ; Schell, John C....
Science.  337 (2012)  6090 - p. 96-100 , 2012
Link: https://doi.org/10.1126/..
 
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15

A Mitochondrial Pyruvate Carrier Required for Pyruvate Upta..:

Bricker, Daniel K. ; Taylor, Eric B. ; Schell, John C....
Science.  337 (2012)  6090 - p. 96-100 , 2012
Link: https://www.jstor.org/st..
 
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