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X
Boespflug-Tanguy, Odile
211  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

RINT1 deficiency disrupts lipid metabolism and underlies a ..:

Launay, Nathalie ; Ruiz, Montserrat ; Planas-Serra, Laura...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348772/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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2

Titin copy number variations associated with dominant inher..:

Perrin, Aurélien ; Métay, Corinne ; Savarese, Marco...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg-2023-109473.  , 2023
Link: https://hal.science/hal-..
 
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3

Prospective Multicenter Validation of a Simple Blood Test f..:

Mochel, Fanny ; Gras, Domitille ; Luton, Marie-Pierre...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000207296.  , 2023
Link: https://hal.science/hal-..
 
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4

RINT1 deficiency disrupts lipid metabolism and underlies a ..:

Launay, Nathalie ; Ruiz, Montserrat ; Planas-Serra, Laura...
#PLACEHOLDER_PARENT_METADATA_VALUE#.  , 2023
Link: http://hdl.handle.net/10..
 
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5

Prospective Multicenter Validation of a Simple Blood Test f..:

Mochel, Fanny ; Gras, Domitille ; Luton, Marie-Pierre...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000207296.  , 2023
Link: https://hal.science/hal-..
 
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6

Titin copy number variations associated with dominant inher..:

Perrin, Aurélien ; Métay, Corinne ; Savarese, Marco...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg-2023-109473.  , 2023
Link: https://hal.science/hal-..
 
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7

Titin copy number variations associated with dominant inher..:

Perrin, Aurélien ; Métay, Corinne ; Savarese, Marco...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg-2023-109473.  , 2023
Link: https://hal.science/hal-..
 
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8

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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9

Case Report: A New Family With Pontocerebellar Hypoplasia 1..:

Amin, Mutaz ; Vignal, Cedric ; Hamed, Ahlam A. A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9201487/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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10

Combining neuroanatomical features to support diagnosis of ..:

Fraize, Justine ; Garzón, Pauline ; Ntorkou, Alexandra...
info:eu-repo/semantics/altIdentifier/doi/10.1111/dmcn.15411.  , 2022
Link: https://inserm.hal.scien..
 
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11

Parents' dilemma: A therapeutic decision for children with ..:

Boursange, Sophie ; Araneda, Marco ; Stalens, Caroline...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811815/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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12

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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13

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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14

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
Link: https://univ-rennes.hal...
 
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15

Combining neuroanatomical features to support diagnosis of ..:

Fraize, Justine ; Garzón, Pauline ; Ntorkou, Alexandra...
info:eu-repo/semantics/altIdentifier/doi/10.1111/dmcn.15411.  , 2022
Link: https://inserm.hal.scien..
 
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