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Soukarieh, Omar
94  Ergebnisse:
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1

uAUG creating variants in the 5'UTR of ENG causing Heredita..:

Soukarieh, Omar ; Tillet, Emmanuelle ; Proust, Carole...
npj Genomic Medicine.  8 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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2

Common and Rare 5′UTR Variants Altering Upstream Open Readi..:

Soukarieh, Omar ; Meguerditchian, Caroline ; Proust, Carole...
Frontiers in Cardiovascular Medicine.  9 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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3

Small Open Reading Frames, How to Find Them and Determine T..:

Kute, Preeti Madhav ; Soukarieh, Omar ; Tjeldnes, Håkon..
Frontiers in Genetics.  12 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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4

SPiP: Splicing Prediction Pipeline, a machine learning tool..:

Leman, Raphaël ; Parfait, Béatrice ; Vidaud, Dominique...
Human Mutation.  43 (2022)  12 - p. 2308-2323 , 2022
Link: https://doi.org/10.1002/..
 
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5

An artificial neural network approach integrating plasma pr..:

Razzaq, Misbah ; Iglesias, Maria Jesus ; Ibrahim-Kosta, Manal...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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6

A rare coding mutation in the MAST2 gene causes venous thro..:

Morange, Pierre-Emmanuel ; Peiretti, Franck ; Gourhant, Lenaick...
PLOS Genetics.  17 (2021)  1 - p. e1009284 , 2021
Link: https://doi.org/10.1371/..
 
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7

Functional characterization ofABCC8variants of unknown sign..:

Saint‐Martin, Cécile ; Cauchois‐Le Mière, Marine ; Rex, Emily...
Human Mutation.  42 (2021)  4 - p. 408-420 , 2021
Link: https://doi.org/10.1002/..
 
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8

MLH1 intronic variants mapping to + 5 position of splice do..:

Piñero, Tamara Alejandra ; Soukarieh, Omar ; Rolain, Marion...
Familial Cancer.  19 (2020)  4 - p. 323-336 , 2020
Link: https://doi.org/10.1007/..
 
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9

A novel rare c.-39C>T mutation in the PROS1 5′UTR causing P..:

Labrouche-Colomer, Sylvie ; Soukarieh, Omar ; Proust, Carole...
Clinical Science.  134 (2020)  10 - p. 1181-1190 , 2020
Link: https://doi.org/10.1042/..
 
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10

Large‐scale comparative evaluation of user‐friendly tools f..:

Tubeuf, Hélène ; Charbonnier, Camille ; Soukarieh, Omar...
Human Mutation.  41 (2020)  10 - p. 1811-1829 , 2020
Link: https://doi.org/10.1002/..
 
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11

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C..:

de la Hoya, Miguel ; Soukarieh, Omar ; López-Perolio, Irene...
Human Molecular Genetics.  25 (2016)  11 - p. 2256-2268 , 2016
Link: https://doi.org/10.1093/..
 
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12

Assessment of the InSiGHT Interpretation Criteria for the C..:

Tricarico, Rossella ; Kasela, Mariann ; Mareni, Cristina...
Human Mutation.  38 (2016)  1 - p. 64-77 , 2016
Link: https://doi.org/10.1002/..
 
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13

Exonic Splicing Mutations Are More Prevalent than Currently..:

Soukarieh, Omar ; Gaildrat, Pascaline ; Hamieh, Mohamad...
PLOS Genetics.  12 (2016)  1 - p. e1005756 , 2016
Link: https://doi.org/10.1371/..
 
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14

Correction: Exonic Splicing Mutations Are More Prevalent th..:

Soukarieh, Omar ; Gaildrat, Pascaline ; Hamieh, Mohamad...
PLOS Genetics.  12 (2016)  4 - p. e1005971 , 2016
Link: https://doi.org/10.1371/..
 
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15

uAUG creating variants in the 5'UTR of ENG causing Heredita..:

Soukarieh, Omar ; Tillet, Emmanuelle ; Proust, Carole...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10582052/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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