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Pallares-Ruiz, Nathalie
123  Ergebnisse:
Personensuche X
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1

Combined Mutation And Rearrangement Screening by Quantitati..:

Pallares-Ruiz, Nathalie ; Philibert, Laurent ; Dumont, Bruno...
PLoS ONE.  5 (2010)  11 - p. e14096 , 2010
Link: https://doi.org/10.1371/..
 
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2

First molecular screening of deafness in the Altai Republic..:

Posukh, Olga ; Pallares-Ruiz, Nathalie ; Tadinova, Vera...
BMC Medical Genetics.  6 (2005)  1 - p. , 2005
Link: https://doi.org/10.1186/..
 
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3

Molecular epidemiology of DFNB1 deafness in France:

Roux, Anne-Françoise ; Pallares-Ruiz, Nathalie ; Vielle, Anne...
BMC Medical Genetics.  5 (2004)  1 - p. , 2004
Link: https://doi.org/10.1186/..
 
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4

A Naturally Occurring Sequence Variation That Creates a YY1..:

Romey, Marie-Catherine ; Pallares-Ruiz, Nathalie ; Mange, Alain...
Journal of Biological Chemistry.  275 (2000)  5 - p. 3561-3567 , 2000
Link: https://doi.org/10.1074/..
 
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5

Complete mutational screening of the cystic fibrosis transm..:

Pallares-Ruiz, Nathalie ; Carles, Soukeyna ; Des Georges, Marie...
Human Reproduction.  14 (1999)  12 - p. 3035-3040 , 1999
Link: https://doi.org/10.1093/..
 
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6

Association of Meier-Gorlin and microcephalic osteodysplast..:

Sabbagh, Quentin ; Tharreau, Mylène ; Cenni, Camille...
European Journal of Medical Genetics.  66 (2023)  5 - p. 104733 , 2023
Link: https://doi.org/10.1016/..
 
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7

CDK13-related disorder: Report of a series of 18 previously..:

Rouxel, Flavien ; Relator, Raissa ; Kerkhof, Jennifer...
Genetics in Medicine.  24 (2022)  5 - p. 1096-1107 , 2022
Link: https://doi.org/10.1016/..
 
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8

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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9

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA ..:

Faivre, Laurence ; Van Kien, Philippe Khau ; Callier, Patrick...
European Journal of Medical Genetics.  53 (2010)  4 - p. 208-212 , 2010
Link: https://doi.org/10.1016/..
 
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10

Missense mutations of conserved glycine residues in fibrill..:

Khau van Kien, Philippe ; Baux, David ; Pallares-Ruiz, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21131.  , 2010
Link: https://hal.science/hal-..
 
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11

Missense mutations of conserved glycine residues in fibrill..:

Khau van Kien, Philippe ; Baux, David ; Pallares-Ruiz, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21131.  , 2010
Link: https://hal.science/hal-..
 
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12

Missense mutations of conserved glycine residues in fibrill..:

Khau van Kien, Philippe ; Baux, David ; Pallares-Ruiz, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21131.  , 2010
Link: https://hal.science/hal-..
 
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13

Missense mutations of conserved glycine residues in fibrill..:

Khau Van Kien, Philippe ; Baux, David ; Pallares-Ruiz, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21131.  , 2010
Link: https://hal.archives-ouv..
 
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14

Missense mutations of conserved glycine residues in fibrill..:

Khau van Kien, Philippe ; Baux, David ; Pallares-Ruiz, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21131.  , 2010
Link: https://hal.science/hal-..
 
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15

Missense mutations of conserved glycine residues in fibrill..:

Khau van Kien, Philippe ; Baux, David ; Pallares-Ruiz, Nathalie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21131.  , 2010
Link: https://hal.science/hal-..
 
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