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Méchin, Déborah
34  Ergebnisse:
Personensuche X
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1

Rapid exome sequencing in critically ill infants: implement..:

Wells, Constance F. ; Boursier, Guilaine ; Yauy, Kevin...
European Journal of Human Genetics.  30 (2022)  9 - p. 1076-1082 , 2022
Link: https://doi.org/10.1038/..
 
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2

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a ..:

Rittore, Cécile ; Méchin, Déborah ; Sanchez, Elodie...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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3

PSMB10, the last immunoproteasome gene missing for PRAAS:

Sarrabay, Guillaume ; Méchin, Déborah ; Salhi, Aicha...
Journal of Allergy and Clinical Immunology.  145 (2020)  3 - p. 1015-1017.e6 , 2020
Link: https://doi.org/10.1016/..
 
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4

FUBP1: a new protagonist in splicing regulation of the DMD ..:

Miro, Julie ; Laaref, Abdelhamid Mahdi ; Rofidal, Valérie...
Nucleic Acids Research.  43 (2015)  4 - p. 2378-2389 , 2015
Link: https://doi.org/10.1093/..
 
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5

Dissecting the Structure and Mechanism of a Complex Duplica..:

Ishmukhametova, Aliya ; Chen, Jian-Min ; Bernard, Rafaëlle...
Human Mutation.  34 (2013)  8 - p. 1080-1084 , 2013
Link: https://doi.org/10.1002/..
 
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6

Pure intronic rearrangements leading to aberrant pseudoexon..:

Khelifi, Mouna Messaoud ; Ishmukhametova, Aliya ; Van Kien, Philippe Khau...
Human Mutation.  32 (2011)  4 - p. 467-475 , 2011
Link: https://doi.org/10.1002/..
 
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7

Rapid exome sequencing in critically ill infants: implement..:

Wells, Constance F ; Boursier, Guilaine ; Yauy, Kevin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9436918/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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8

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a ..:

Rittore, Cécile ; Méchin, Déborah ; Sanchez, Elodie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893027/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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9

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a ..:

Rittore, Cécile ; Méchin, Déborah ; Sanchez, Elodie...
hal-03145389.  , 2021
Link: https://hal.archives-ouv..
 
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10

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a ..:

Rittore, Cécile ; Méchin, Déborah ; Sanchez, Elodie...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41598-021-83539-9.  , 2021
Link: https://hal.science/hal-..
 
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11

TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a ..:

Rittore, Cécile ; Méchin, Déborah ; Sanchez, Elodie...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41598-021-83539-9.  , 2021
Link: https://hal.science/hal-..
 
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12

FUBP1: a new protagonist in splicing regulation of the DMD ..:

Miro, Julie ; Laaref, Abdelhamid Mahdi ; Rofidal, Valérie...
Nucleic Acids Research 4 (43), 2378-2389. (2015).  , 2015
Link: http://prodinra.inra.fr/..
 
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13

Comprehensive oligonucleotide array-comparative genomic hyb..:

Ishmukhametova, Aliya ; Van Kien, Philippe Khau ; Méchin, Déborah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449082.  , 2012
Link: http://www.ncbi.nlm.nih...
 
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14

Variants in CFTR untranslated regions are associated with C..:

Lopez, Estelle ; Viart, Victoria ; Guittard, Caroline...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg.2010.081851.  , 2010
Link: https://hal.archives-ouv..
 
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15

Variants in CFTR untranslated regions are associated with C..:

Lopez, Estelle ; Viart, Victoria ; Guittard, Caroline...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg.2010.081851.  , 2010
Link: https://hal.science/hal-..
 
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